854196
chrX:106871660:T>A
PRPS1
NM_002764:c.-199T>A
FIVE_PRIME_EXON
Unknown significance
rs750915295
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854197
chrX:106871675:T>G
PRPS1
NM_002764:c.-184T>G
FIVE_PRIME_EXON
Benign
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
400
0
0
320
0
4
320
0.0125
0
400
0
0
360
0
3
200
0.015
7
2000
0.0035
854198
chrX:106871684:C>T
PRPS1
NM_002764:c.-175C>T
FIVE_PRIME_EXON
Unknown significance
rs758827912
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854199
chrX:106871692:A>C
PRPS1
NM_002764:c.-167A>C
FIVE_PRIME_EXON
Benign
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
400
0
0
320
0
4
320
0.0125
0
400
0
0
360
0
3
200
0.015
7
2000
0.0035
854200
chrX:106871697:A>C
PRPS1
NM_002764:c.-162A>C
FIVE_PRIME_EXON
Benign
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
400
0
0
320
0
4
320
0.0125
0
400
0
0
360
0
4
200
0.02
8
2000
0.004
854201
chrX:106871706:G>-
PRPS1
NM_002764:c.-153delG
FIVE_PRIME_EXON
Benign
rs768856537
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1003
0
0
766
0
0
524
0
22
764
0.0288
0
718
0
22
3775
0.00582781
854202
chrX:106871783:G>T
PRPS1
NM_002764:c.-76G>T
FIVE_PRIME_EXON
Unknown significance
rs751262798
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
0
524
0
1
764
0.0013
0
718
0
1
3775
0.000264901
854203
chrX:106871786:T>C
PRPS1
NM_002764:c.-73T>C
FIVE_PRIME_EXON
Unknown significance
rs199968422
This variant is a VUS because it does not have enough information.
854204
chrX:106871809:T>G
PRPS1
NM_002764:c.-50T>G
FIVE_PRIME_EXON
Unknown significance
rs772406932
This variant is a VUS because it does not have enough information.
854205
chrX:106871815:G>-
PRPS1
NM_002764:c.-44delG
FIVE_PRIME_EXON
Unknown significance
rs761523210
This variant is a VUS because it does not have enough information.
0
8470
0
0
9324
0
0
6638
0
0
4530
0
0
47842
0
0
632
0
1
10125
0.0000987654
1
87561
0.0000114206
854206
chrX:106871823:G>A
PRPS1
NM_002764:c.-36G>A
FIVE_PRIME_EXON
Unknown significance
rs371006312
This variant is a VUS because it does not have enough information.
0
6728
0
1
3835
0.000260756
1
10563
0.0000946701
854207
chrX:106871826:C>A
PRPS1
NM_002764:c.-33C>A
FIVE_PRIME_EXON
Unknown significance
rs776399830
This variant is a VUS because it does not have enough information.
0
8486
0
0
9324
0
0
6638
0
0
4530
0
1
47870
0.0000208899
0
632
0
0
10125
0
1
87605
0.0000114149
854208
chrX:106871826:C>T
PRPS1
NM_002764:c.-33C>T
FIVE_PRIME_EXON
Unknown significance
rs776399830
This variant is a VUS because it does not have enough information.
0
8486
0
0
9324
0
0
6638
0
0
4530
0
1
47870
0.0000208899
0
632
0
0
10125
0
1
87605
0.0000114149
854209
chrX:106871838:T>G
PRPS1
NM_002764:c.-21T>G
FIVE_PRIME_EXON
Unknown significance
This variant is a VUS because it does not have enough information.
0
400
0
0
320
0
0
320
0
0
400
0
0
360
0
0
200
0
0
2000
0
854210
chrX:106871855:C>T
PRPS1
NM_002764:c.-4C>T
FIVE_PRIME_EXON
Unknown significance
rs765129709
This variant is a VUS because it does not have enough information.
0
8497
0
0
9324
0
1
6638
0.000150648
0
4530
0
0
47921
0
0
632
0
1
10125
0.0000987654
2
87667
0.0000228136
854211
chrX:106871870:C>T
PRPS1
NM_002764:p.Ile4Ile
NM_002764:c.12C>T
EXON1
Unknown significance
rs752590804
This variant is a VUS because it does not have enough information.
0
8504
0
0
9324
0
0
6638
0
0
4530
0
2
47937
0.0000417214
0
632
0
0
10125
0
2
87690
0.0000228076
854212
chrX:106871882:C>T
PRPS1
NM_002764:p.Ser8Ser
NM_002764:c.24C>T
EXON1
Unknown significance
rs754682838
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
0
524
0
0
764
0
1
718
0.0014
1
3775
0.000264901
0
8498
0
0
9324
0
0
6638
0
0
4530
0
0
47918
0
0
632
0
2
10125
0.000197531
2
87665
0.0000228141
854213
chrX:106871888:C>G
PRPS1
NM_002764:p.Ser10Arg
NM_002764:c.30C>G
EXON1
Unknown significance
rs763453976
This variant is a VUS because it does not have enough information.
-0.328
N
0.067;0.049
T;D
0.03
B
0
D
0.999774
D;D
2.23
C
854214
chrX:106871904:T>C
PRPS1
NM_002764:p.Ser16Pro
NM_002764:c.46T>C
EXON1
Pathogenic
Retinitis pigmentosa, syndromic
25491489
Pathogenicity is based on the literature provided in PubMed.
1.061
C
0.002
D
0.835
P
0
D
0.999999
D;D
4.93
C
854215
chrX:106871912:A>G
PRPS1
NM_002764:p.Lys18Lys
NM_002764:c.54A>G
EXON1
Unknown significance
rs751085506
This variant is a VUS because it does not have enough information.
0
8505
0
0
9321
0
0
6637
0
0
4530
0
0
47942
0
0
632
0
1
10124
0.0000987752
1
87691
0.0000114037
854216
chrX:106871918:T>C
PRPS1
NM_002764:p.Ala20Ala
NM_002764:c.60T>C
EXON1
Unknown significance
rs756853882
This variant is a VUS because it does not have enough information.
0
8504
0
0
9321
0
0
6637
0
0
4530
0
2
47941
0.0000417179
0
631
0
0
10123
0
2
87687
0.0000228084
854217
chrX:106871947:T>G
PRPS1
NM_002764:p.Val30Gly
NM_002764:c.89T>G
EXON1
Unknown significance
This variant is a VUS because it does not have enough information.
1.061
C
0.0
D
0.689
P
0
D
1
D;D
4.93
C
0
400
0
0
320
0
0
320
0
0
400
0
0
360
0
0
200
0
0
2000
0
854218
chrX:106871950:T>G
PRPS1
NM_002764:p.Val31Gly
NM_002764:c.92T>G
EXON1
Unknown significance
This variant is a VUS because it does not have enough information.
1.061
C
0.417;0.411
T
0.086
B
0
D
1
D;D
4.93
C
0
400
0
0
320
0
0
320
0
0
400
0
0
360
0
0
200
0
0
2000
0
854219
chrX:106871965:G>C
PRPS1
NM_002764:p.Ser36Thr
NM_002764:c.107G>C
EXON1
Unknown significance
rs780954680
This variant is a VUS because it does not have enough information.
1.048
C
0.053;0.048
T;D
0.0
B
0
D
0.999999
D;D
4.93
C
0
8487
0
0
9309
0
0
6631
0
0
4522
0
1
47824
0.00002091
0
629
0
0
10078
0
1
87480
0.0000114312
854220
chrX:106871981:->TGTGGAAATTGGTGAAAGTGTACGTGGAGAGGATGTCTACATT
PRPS1
NM_002764:c.122+1_122+2insTGTGGAAATTGGTGAAAGTGTACGTGGAGAGGATGTCTACATT
INTRON1
Unknown significance
rs767417913
This variant is a VUS because it does not have enough information.
854221
chrX:106871993:T>C
PRPS1
NM_002764:c.122+13T>C
INTRON1
Unknown significance
rs750791916
This variant is a VUS because it does not have enough information.
0
8442
0
0
9235
0
0
6588
0
0
4488
0
1
47352
0.0000211184
0
623
0
0
9979
0
1
86707
0.0000115331
854222
chrX:106871996:G>A
PRPS1
NM_002764:c.122+16G>A
INTRON1
Unknown significance
rs756583830
This variant is a VUS because it does not have enough information.
854223
chrX:106872004:A>G
PRPS1
NM_002764:c.122+24A>G
INTRON1
Unknown significance
rs375500956
This variant is a VUS because it does not have enough information.
1
6728
0.000148633
0
3835
0
1
10563
0.0000946701
0
8377
0
0
9189
0
0
6552
0
0
4473
0
1
46944
0.000021302
0
616
0
0
9947
0
1
86098
0.0000116147
854224
chrX:106872010:C>T
PRPS1
NM_002764:c.122+30C>T
INTRON1
Unknown significance
rs367842963
This variant is a VUS because it does not have enough information.
0
8321
0
0
9174
0
0
6535
0
0
4463
0
0
46653
0
0
614
0
1
9925
0.000100756
1
85685
0.0000116707
854225
chrX:106872017:T>G
PRPS1
NM_002764:c.122+37T>G
INTRON1
Benign
rs193273254
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
2
6727
0.000297309
1
3835
0.000260756
3
10562
0.000284037
0
1003
0
0
766
0
20
524
0.0382
9
764
0.0118
0
718
0
29
3775
0.00768212
0
8270
0
341
9122
0.0373822
103
6483
0.0158877
6
4446
0.00134953
19
46277
0.000410571
4
611
0.00654664
4
9891
0.000404408
477
85100
0.00560517
854226
chrX:106872018:G>A
PRPS1
NM_002764:c.122+38G>A
INTRON1
Unknown significance
rs778859413
This variant is a VUS because it does not have enough information.
0
8238
0
0
9127
0
0
6471
0
0
4434
0
1
46135
0.0000216755
0
609
0
0
9885
0
1
84899
0.0000117787
854227
chrX:106872026:G>A
PRPS1
NM_002764:c.122+46G>A
INTRON1
Unknown significance
rs748321395
This variant is a VUS because it does not have enough information.
0
8188
0
0
9063
0
0
6409
0
1
4408
0.00022686
0
45698
0
0
607
0
2
9806
0.000203957
3
84179
0.0000356383
854228
chrX:106872036:A>G
PRPS1
NM_002764:c.122+56A>G
INTRON1
Unknown significance
rs747701318
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
1
524
0.0019
0
764
0
0
718
0
1
3775
0.000264901
854229
chrX:106872140:C>T
PRPS1
NM_002764:c.122+160C>T
INTRON1
Unknown significance
rs755523346
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854230
chrX:106872178:G>-
PRPS1
NM_002764:c.122+198delG
INTRON1
Unknown significance
rs749410565
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
0
524
0
1
764
0.0013
0
718
0
1
3775
0.000264901
854231
chrX:106872194:A>G
PRPS1
NM_002764:c.122+214A>G
INTRON1
Unknown significance
rs771636792
This variant is a VUS because it does not have enough information.
854232
chrX:106872234:C>T
PRPS1
NM_002764:c.122+254C>T
INTRON1
Benign
rs138384709
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
32
1003
0.0319
1
766
0.0013
0
524
0
0
764
0
0
718
0
33
3775
0.00874172
854233
chrX:106872268:G>A
PRPS1
NM_002764:c.122+288G>A
INTRON1
Unknown significance
rs185415093
This variant is a VUS because it does not have enough information.
0
1003
0
1
766
0.0013
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854234
chrX:106872270:C>A
PRPS1
NM_002764:c.122+290C>A
INTRON1
Unknown significance
rs773293666
This variant is a VUS because it does not have enough information.
854235
chrX:106872275:G>-
PRPS1
NM_002764:c.122+295delG
INTRON1
Unknown significance
rs778869012
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
1
524
0.0019
0
764
0
0
718
0
1
3775
0.000264901
854236
chrX:106872308:C>G
PRPS1
NM_002764:c.122+328C>G
INTRON1
Unknown significance
rs760477411
This variant is a VUS because it does not have enough information.
854237
chrX:106872343:G>A
PRPS1
NM_002764:c.122+363G>A
INTRON1
Unknown significance
rs766240300
This variant is a VUS because it does not have enough information.
854238
chrX:106872348:G>A
PRPS1
NM_002764:c.122+368G>A
INTRON1
Unknown significance
rs745615704
This variant is a VUS because it does not have enough information.
0
1003
0
1
766
0.0013
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854239
chrX:106872389:A>G
PRPS1
NM_002764:c.122+409A>G
INTRON1
Unknown significance
rs768924705
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
0
524
0
1
764
0.0013
0
718
0
2
3775
0.000529801
854240
chrX:106872395:G>T
PRPS1
NM_002764:c.122+415G>T
INTRON1
Unknown significance
rs753555561
This variant is a VUS because it does not have enough information.
854241
chrX:106872399:T>C
PRPS1
NM_002764:c.122+419T>C
INTRON1
Unknown significance
rs374765543
This variant is a VUS because it does not have enough information.
854242
chrX:106872433:A>G
PRPS1
NM_002764:c.122+453A>G
INTRON1
Benign
rs142874509
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
1
1003
0.001
7
766
0.0091
3
524
0.0057
0
764
0
2
718
0.0028
13
3775
0.00344371
854243
chrX:106872575:C>A
PRPS1
NM_002764:c.122+595C>A
INTRON1
Benign
rs146084272
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1003
0
1
766
0.0013
0
524
0
4
764
0.0052
4
718
0.0056
9
3775
0.00238411
854244
chrX:106872588:T>C
PRPS1
NM_002764:c.122+608T>C
INTRON1
Unknown significance
rs769758337
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854245
chrX:106872613:T>G
PRPS1
NM_002764:c.122+633T>G
INTRON1
Unknown significance
rs189414406
This variant is a VUS because it does not have enough information.
3
1003
0.003
0
766
0
0
524
0
0
764
0
0
718
0
3
3775
0.000794702
854246
chrX:106872651:C>T
PRPS1
NM_002764:c.122+671C>T
INTRON1
Unknown significance
rs765444382
This variant is a VUS because it does not have enough information.
854247
chrX:106872652:A>G
PRPS1
NM_002764:c.122+672A>G
INTRON1
Unknown significance
rs752850344
This variant is a VUS because it does not have enough information.
854248
chrX:106872792:A>-
PRPS1
NM_002764:c.122+812delA
INTRON1
Unknown significance
rs35200070
This variant is a VUS because it does not have enough information.
854249
chrX:106872809:T>C
PRPS1
NM_002764:c.122+829T>C
INTRON1
Unknown significance
rs758486202
This variant is a VUS because it does not have enough information.
854250
chrX:106872817:A>T
PRPS1
NM_002764:c.122+837A>T
INTRON1
Unknown significance
rs180981877
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854251
chrX:106872877:A>G
PRPS1
NM_002764:c.122+897A>G
INTRON1
Unknown significance
rs766823778
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854252
chrX:106872897:->G
PRPS1
NM_002764:c.122+917_122+918insG
INTRON1
Unknown significance
rs35044412
This variant is a VUS because it does not have enough information.
854253
chrX:106873144:AATC>-
PRPS1
NM_002764:c.122+1164_122+1167delAATC
INTRON1
Unknown significance
rs759095342
This variant is a VUS because it does not have enough information.
854254
chrX:106873167:A>-
PRPS1
NM_002764:c.122+1187delA
INTRON1
Unknown significance
rs751954344
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
0
524
0
0
764
0
1
718
0.0014
1
3775
0.000264901
854255
chrX:106873292:C>T
PRPS1
NM_002764:c.122+1312C>T
INTRON1
Unknown significance
rs759753528
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854256
chrX:106873305:T>C
PRPS1
NM_002764:c.122+1325T>C
INTRON1
Unknown significance
rs183775374
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
2
524
0.0038
0
764
0
0
718
0
2
3775
0.000529801
854257
chrX:106873343:T>A
PRPS1
NM_002764:c.122+1363T>A
INTRON1
Unknown significance
rs752281052
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854258
chrX:106873413:A>G
PRPS1
NM_002764:c.122+1433A>G
INTRON1
Unknown significance
rs796366037
This variant is a VUS because it does not have enough information.
854259
chrX:106873464:T>C
PRPS1
NM_002764:c.122+1484T>C
INTRON1
Benign
rs10521515
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
32
1003
0.0319
1
766
0.0013
0
524
0
0
764
0
0
718
0
33
3775
0.00874172
854260
chrX:106873635:G>A
PRPS1
NM_002764:c.122+1655G>A
INTRON1
Benign
rs73522885
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
219
1003
0.2183
1
766
0.0013
16
524
0.0305
0
764
0
0
718
0
236
3775
0.0625166
854261
chrX:106873643:A>G
PRPS1
NM_002764:c.122+1663A>G
INTRON1
Unknown significance
rs757672970
This variant is a VUS because it does not have enough information.
854262
chrX:106873647:G>C
PRPS1
NM_002764:c.122+1667G>C
INTRON1
Unknown significance
rs552527422
This variant is a VUS because it does not have enough information.
854263
chrX:106873750:T>A
PRPS1
NM_002764:c.122+1770T>A
INTRON1
Unknown significance
rs188846804
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
2
524
0.0038
0
764
0
0
718
0
2
3775
0.000529801
854264
chrX:106873804:->T
PRPS1
NM_002764:c.122+1824_122+1825insT
INTRON1
Unknown significance
rs200870825
This variant is a VUS because it does not have enough information.
854265
chrX:106873819:T>C
PRPS1
NM_002764:c.122+1839T>C
INTRON1
Unknown significance
rs181131365
This variant is a VUS because it does not have enough information.
2
1003
0.002
0
766
0
0
524
0
0
764
0
0
718
0
2
3775
0.000529801
854266
chrX:106873821:C>A
PRPS1
NM_002764:c.122+1841C>A
INTRON1
Unknown significance
rs186982435
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
1
524
0.0019
0
764
0
0
718
0
1
3775
0.000264901
854267
chrX:106873821:C>T
PRPS1
NM_002764:c.122+1841C>T
INTRON1
Unknown significance
rs186982435
This variant is a VUS because it does not have enough information.
854268
chrX:106873886:T>G
PRPS1
NM_002764:c.122+1906T>G
INTRON1
Unknown significance
rs781655355
This variant is a VUS because it does not have enough information.
854269
chrX:106873891:C>T
PRPS1
NM_002764:c.122+1911C>T
INTRON1
Unknown significance
rs745688321
This variant is a VUS because it does not have enough information.
3
1003
0.003
0
766
0
0
524
0
0
764
0
0
718
0
3
3775
0.000794702
854270
chrX:106873940:T>A
PRPS1
NM_002764:c.122+1960T>A
INTRON1
Unknown significance
rs771748172
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854271
chrX:106873969:->AC
PRPS1
NM_002764:c.122+1989_122+1990insAC
INTRON1
Benign
rs111543861
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
360
1003
0.3589
72
766
0.094
63
524
0.1202
61
764
0.0798
81
718
0.1128
637
3775
0.168742
854272
chrX:106873969:->ACAC
PRPS1
NM_002764:c.122+1989_122+1990insACAC
INTRON1
Unknown significance
rs111543861
This variant is a VUS because it does not have enough information.
854273
chrX:106873969:AC>-
PRPS1
NM_002764:c.122+1989_122+1990delAC
INTRON1
Unknown significance
rs371707973
This variant is a VUS because it does not have enough information.
854274
chrX:106874039:G>A
PRPS1
NM_002764:c.122+2059G>A
INTRON1
Unknown significance
rs191474853
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
0
524
0
2
764
0.0026
0
718
0
2
3775
0.000529801
854275
chrX:106874103:->C
PRPS1
NM_002764:c.122+2123_122+2124insC
INTRON1
Unknown significance
rs36067824
This variant is a VUS because it does not have enough information.
854276
chrX:106874167:ATA>-
PRPS1
NM_002764:c.122+2187_122+2189delATA
INTRON1
Unknown significance
rs760134364
This variant is a VUS because it does not have enough information.
854277
chrX:106874202:G>A
PRPS1
NM_002764:c.122+2222G>A
INTRON1
Unknown significance
rs746204757
This variant is a VUS because it does not have enough information.
854278
chrX:106874243:G>A
PRPS1
NM_002764:c.122+2263G>A
INTRON1
Unknown significance
rs754743556
This variant is a VUS because it does not have enough information.
854279
chrX:106874314:G>A
PRPS1
NM_002764:c.122+2334G>A
INTRON1
Unknown significance
rs769966211
This variant is a VUS because it does not have enough information.
0
1003
0
1
766
0.0013
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854280
chrX:106874318:T>C
PRPS1
NM_002764:c.122+2338T>C
INTRON1
Unknown significance
rs773302921
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
0
524
0
0
764
0
1
718
0.0014
1
3775
0.000264901
854281
chrX:106874334:T>-
PRPS1
NM_002764:c.122+2354delT
INTRON1
Unknown significance
rs34555392
This variant is a VUS because it does not have enough information.
854282
chrX:106874351:A>G
PRPS1
NM_002764:c.122+2371A>G
INTRON1
Unknown significance
rs182452681
This variant is a VUS because it does not have enough information.
0
1003
0
1
766
0.0013
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854283
chrX:106874478:T>A
PRPS1
NM_002764:c.122+2498T>A
INTRON1
Unknown significance
rs778709371
This variant is a VUS because it does not have enough information.
854284
chrX:106874479:A>G
PRPS1
NM_002764:c.122+2499A>G
INTRON1
Unknown significance
rs747741622
This variant is a VUS because it does not have enough information.
854285
chrX:106874494:G>C
PRPS1
NM_002764:c.122+2514G>C
INTRON1
Unknown significance
rs186379973
This variant is a VUS because it does not have enough information.
0
1003
0
1
766
0.0013
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854286
chrX:106874496:G>A
PRPS1
NM_002764:c.122+2516G>A
INTRON1
Unknown significance
rs771728429
This variant is a VUS because it does not have enough information.
854287
chrX:106874547:G>A
PRPS1
NM_002764:c.122+2567G>A
INTRON1
Unknown significance
rs570999604
This variant is a VUS because it does not have enough information.
854288
chrX:106874548:C>T
PRPS1
NM_002764:c.122+2568C>T
INTRON1
Unknown significance
rs772806190
This variant is a VUS because it does not have enough information.
854289
chrX:106874589:G>A
PRPS1
NM_002764:c.122+2609G>A
INTRON1
Unknown significance
rs774784583
This variant is a VUS because it does not have enough information.
0
1003
0
1
766
0.0013
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854290
chrX:106874630:A>G
PRPS1
NM_002764:c.122+2650A>G
INTRON1
Unknown significance
rs747019743
This variant is a VUS because it does not have enough information.
854291
chrX:106874682:A>C
PRPS1
NM_002764:c.122+2702A>C
INTRON1
Unknown significance
rs770762937
This variant is a VUS because it does not have enough information.
854292
chrX:106874862:C>T
PRPS1
NM_002764:c.122+2882C>T
INTRON1
Benign
rs760006234
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1003
0
0
766
0
0
524
0
0
764
0
9
718
0.0125
9
3775
0.00238411
854293
chrX:106874942:C>T
PRPS1
NM_002764:c.122+2962C>T
INTRON1
Unknown significance
rs776561387
This variant is a VUS because it does not have enough information.
854294
chrX:106874974:T>A
PRPS1
NM_002764:c.122+2994T>A
INTRON1
Benign
rs190873476
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
32
1003
0.0319
1
766
0.0013
0
524
0
0
764
0
0
718
0
33
3775
0.00874172
854295
chrX:106875002:C>T
PRPS1
NM_002764:c.122+3022C>T
INTRON1
Unknown significance
rs372450890
This variant is a VUS because it does not have enough information.
0
1003
0
1
766
0.0013
0
524
0
1
764
0.0013
0
718
0
2
3775
0.000529801
854296
chrX:106875073:C>T
PRPS1
NM_002764:c.122+3093C>T
INTRON1
Unknown significance
rs200476611
This variant is a VUS because it does not have enough information.
854297
chrX:106875091:T>A
PRPS1
NM_002764:c.122+3111T>A
INTRON1
Unknown significance
rs111613490
This variant is a VUS because it does not have enough information.
854298
chrX:106875209:G>A
PRPS1
NM_002764:c.122+3229G>A
INTRON1
Unknown significance
rs760264647
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
0
524
0
1
764
0.0013
0
718
0
1
3775
0.000264901
854299
chrX:106875213:C>T
PRPS1
NM_002764:c.122+3233C>T
INTRON1
Unknown significance
rs764954665
This variant is a VUS because it does not have enough information.
854300
chrX:106875229:A>G
PRPS1
NM_002764:c.122+3249A>G
INTRON1
Unknown significance
rs763795780
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
1
524
0.0019
0
764
0
0
718
0
1
3775
0.000264901
854301
chrX:106875324:T>C
PRPS1
NM_002764:c.122+3344T>C
INTRON1
Benign
rs144193551
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
31
1003
0.0309
0
766
0
1
524
0.0019
0
764
0
0
718
0
32
3775
0.00847682
854302
chrX:106875353:C>T
PRPS1
NM_002764:c.122+3373C>T
INTRON1
Unknown significance
rs756765672
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
0
524
0
0
764
0
1
718
0.0014
1
3775
0.000264901
854303
chrX:106875589:G>A
PRPS1
NM_002764:c.122+3609G>A
INTRON1
Unknown significance
rs779050605
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
0
524
0
0
764
0
3
718
0.0042
3
3775
0.000794702
854304
chrX:106875615:C>T
PRPS1
NM_002764:c.122+3635C>T
INTRON1
Unknown significance
rs182334827
This variant is a VUS because it does not have enough information.
2
1003
0.002
0
766
0
2
524
0.0038
0
764
0
0
718
0
4
3775
0.0010596
854305
chrX:106875621:A>G
PRPS1
NM_002764:c.122+3641A>G
INTRON1
Unknown significance
rs758252130
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854306
chrX:106875626:C>T
PRPS1
NM_002764:c.122+3646C>T
INTRON1
Unknown significance
rs763123265
This variant is a VUS because it does not have enough information.
854307
chrX:106875712:A>G
PRPS1
NM_002764:c.122+3732A>G
INTRON1
Unknown significance
rs764196639
This variant is a VUS because it does not have enough information.
854308
chrX:106875720:C>T
PRPS1
NM_002764:c.122+3740C>T
INTRON1
Benign
rs148691098
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1003
0
6
766
0.0078
1
524
0.0019
0
764
0
4
718
0.0056
11
3775
0.00291391
854309
chrX:106875741:G>C
PRPS1
NM_002764:c.122+3761G>C
INTRON1
Unknown significance
rs746769872
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854310
chrX:106875759:T>A
PRPS1
NM_002764:c.122+3779T>A
INTRON1
Unknown significance
rs756360348
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
0
524
0
0
764
0
2
718
0.0028
2
3775
0.000529801
854311
chrX:106875797:T>C
PRPS1
NM_002764:c.122+3817T>C
INTRON1
Unknown significance
rs757839327
This variant is a VUS because it does not have enough information.
854312
chrX:106875867:G>T
PRPS1
NM_002764:c.122+3887G>T
INTRON1
Benign
rs10217967
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
231
1003
0.2303
1
766
0.0013
9
524
0.0172
3
764
0.0039
6
718
0.0084
250
3775
0.0662252
854313
chrX:106875940:A>G
PRPS1
NM_002764:c.122+3960A>G
INTRON1
Unknown significance
rs750872392
This variant is a VUS because it does not have enough information.
854314
chrX:106876014:T>G
PRPS1
NM_002764:c.122+4034T>G
INTRON1
Unknown significance
rs756557143
This variant is a VUS because it does not have enough information.
854315
chrX:106876047:C>T
PRPS1
NM_002764:c.122+4067C>T
INTRON1
Unknown significance
rs186482273
This variant is a VUS because it does not have enough information.
854316
chrX:106876171:A>G
PRPS1
NM_002764:c.122+4191A>G
INTRON1
Unknown significance
rs749385243
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854317
chrX:106876188:C>T
PRPS1
NM_002764:c.122+4208C>T
INTRON1
Unknown significance
rs532784341
This variant is a VUS because it does not have enough information.
854318
chrX:106876248:G>C
PRPS1
NM_002764:c.122+4268G>C
INTRON1
Benign
rs73522887
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
257
1003
0.2562
3
766
0.0039
60
524
0.1145
34
764
0.0445
39
718
0.0543
393
3775
0.104106
854319
chrX:106876272:A>G
PRPS1
NM_002764:c.122+4292A>G
INTRON1
Unknown significance
rs191421495
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854320
chrX:106876273:T>A
PRPS1
NM_002764:c.122+4293T>A
INTRON1
Unknown significance
rs746333368
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854321
chrX:106876314:A>T
PRPS1
NM_002764:c.122+4334A>T
INTRON1
Benign
rs182847765
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1003
0
0
766
0
0
524
0
8
764
0.0105
0
718
0
8
3775
0.00211921
854322
chrX:106876331:C>T
PRPS1
NM_002764:c.122+4351C>T
INTRON1
Unknown significance
rs188712487
This variant is a VUS because it does not have enough information.
2
1003
0.002
0
766
0
1
524
0.0019
0
764
0
0
718
0
3
3775
0.000794702
854323
chrX:106876349:G>T
PRPS1
NM_002764:c.122+4369G>T
INTRON1
Unknown significance
rs192975637
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
1
524
0.0019
0
764
0
0
718
0
1
3775
0.000264901
854324
chrX:106876375:G>A
PRPS1
NM_002764:c.122+4395G>A
INTRON1
Unknown significance
rs185204310
This variant is a VUS because it does not have enough information.
0
1003
0
2
766
0.0026
0
524
0
0
764
0
1
718
0.0014
3
3775
0.000794702
854325
chrX:106876381:G>A
PRPS1
NM_002764:c.122+4401G>A
INTRON1
Benign
rs7884442
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
257
1003
0.2562
3
766
0.0039
60
524
0.1145
34
764
0.0445
39
718
0.0543
393
3775
0.104106
854326
chrX:106876497:->A
PRPS1
NM_002764:c.122+4517_122+4518insA
INTRON1
Unknown significance
rs764603309
This variant is a VUS because it does not have enough information.
854327
chrX:106876511:G>A
PRPS1
NM_002764:c.122+4531G>A
INTRON1
Unknown significance
rs761480846
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
1
524
0.0019
0
764
0
0
718
0
2
3775
0.000529801
854328
chrX:106876525:G>A
PRPS1
NM_002764:c.122+4545G>A
INTRON1
Unknown significance
rs764808225
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
0
524
0
0
764
0
1
718
0.0014
2
3775
0.000529801
854329
chrX:106876525:G>T
PRPS1
NM_002764:c.122+4545G>T
INTRON1
Unknown significance
rs764808225
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
0
524
0
2
764
0.0026
0
718
0
2
3775
0.000529801
854330
chrX:106876596:G>A
PRPS1
NM_002764:c.122+4616G>A
INTRON1
Benign
rs758290517
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
1
1003
0.001
7
766
0.0091
4
524
0.0076
0
764
0
5
718
0.007
17
3775
0.00450331
854331
chrX:106876615:G>A
PRPS1
NM_002764:c.122+4635G>A
INTRON1
Benign
rs145160619
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1003
0
0
766
0
64
524
0.1221
0
764
0
0
718
0
64
3775
0.0169536
854332
chrX:106876734:G>A
PRPS1
NM_002764:c.122+4754G>A
INTRON1
Unknown significance
rs188088931
This variant is a VUS because it does not have enough information.
854333
chrX:106876860:A>T
PRPS1
NM_002764:c.122+4880A>T
INTRON1
Benign
rs751317330
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
9
1003
0.009
0
766
0
2
524
0.0038
0
764
0
0
718
0
11
3775
0.00291391
854334
chrX:106877017:C>T
PRPS1
NM_002764:c.122+5037C>T
INTRON1
Benign
rs537971156
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1003
0
0
766
0
0
524
0
0
764
0
12
718
0.0167
12
3775
0.00317881
854335
chrX:106877055:G>A
PRPS1
NM_002764:c.122+5075G>A
INTRON1
Unknown significance
rs770411841
This variant is a VUS because it does not have enough information.
854336
chrX:106877093:G>A
PRPS1
NM_002764:c.122+5113G>A
INTRON1
Unknown significance
rs776447158
This variant is a VUS because it does not have enough information.
854337
chrX:106877152:G>A
PRPS1
NM_002764:c.122+5172G>A
INTRON1
Benign
rs778029393
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1003
0
0
766
0
0
524
0
0
764
0
10
718
0.0139
10
3775
0.00264901
854338
chrX:106877308:G>A
PRPS1
NM_002764:c.123-5217G>A
INTRON1
Unknown significance
rs369171236
This variant is a VUS because it does not have enough information.
854339
chrX:106877331:T>A
PRPS1
NM_002764:c.123-5194T>A
INTRON1
Unknown significance
rs749511614
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
0
524
0
0
764
0
0
718
0
0
3775
0
854340
chrX:106877445:T>G
PRPS1
NM_002764:c.123-5080T>G
INTRON1
Unknown significance
rs757371182
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854341
chrX:106877491:C>A
PRPS1
NM_002764:c.123-5034C>A
INTRON1
Unknown significance
rs112037796
This variant is a VUS because it does not have enough information.
854342
chrX:106877506:G>A
PRPS1
NM_002764:c.123-5019G>A
INTRON1
Unknown significance
rs745757185
This variant is a VUS because it does not have enough information.
854343
chrX:106877526:G>A
PRPS1
NM_002764:c.123-4999G>A
INTRON1
Unknown significance
rs778841095
This variant is a VUS because it does not have enough information.
0
1003
0
1
766
0.0013
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854344
chrX:106877545:C>T
PRPS1
NM_002764:c.123-4980C>T
INTRON1
Unknown significance
rs775236243
This variant is a VUS because it does not have enough information.
854345
chrX:106877547:C>T
PRPS1
NM_002764:c.123-4978C>T
INTRON1
Unknown significance
rs763209177
This variant is a VUS because it does not have enough information.
854346
chrX:106877589:C>T
PRPS1
NM_002764:c.123-4936C>T
INTRON1
Benign
rs550209701
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1003
0
0
766
0
0
524
0
0
764
0
15
718
0.0209
15
3775
0.00397351
854347
chrX:106877651:C>T
PRPS1
NM_002764:c.123-4874C>T
INTRON1
Benign
rs113906370
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
5
1003
0.005
0
766
0
0
524
0
0
764
0
0
718
0
5
3775
0.0013245
854348
chrX:106877750:A>C
PRPS1
NM_002764:c.123-4775A>C
INTRON1
Unknown significance
rs59623574
This variant is a VUS because it does not have enough information.
854349
chrX:106877863:T>C
PRPS1
NM_002764:c.123-4662T>C
INTRON1
Unknown significance
rs112717844
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854350
chrX:106877904:A>T
PRPS1
NM_002764:c.123-4621A>T
INTRON1
Unknown significance
rs764286284
This variant is a VUS because it does not have enough information.
854351
chrX:106877944:A>G
PRPS1
NM_002764:c.123-4581A>G
INTRON1
Unknown significance
rs183830604
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854352
chrX:106877955:G>A
PRPS1
NM_002764:c.123-4570G>A
INTRON1
Unknown significance
rs769136248
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854353
chrX:106878001:->AGAT
PRPS1
NM_002764:c.123-4524_123-4523insAGAT
INTRON1
Benign
rs776461951
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1003
0
0
766
0
0
524
0
0
764
0
12
718
0.0167
12
3775
0.00317881
854354
chrX:106878065:G>T
PRPS1
NM_002764:c.123-4460G>T
INTRON1
Unknown significance
rs111806334
This variant is a VUS because it does not have enough information.
854355
chrX:106878066:->T
PRPS1
NM_002764:c.123-4459_123-4458insT
INTRON1
Unknown significance
rs781010422
This variant is a VUS because it does not have enough information.
854356
chrX:106878070:T>G
PRPS1
NM_002764:c.123-4455T>G
INTRON1
Unknown significance
rs761534167
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
0
524
0
0
764
0
1
718
0.0014
1
3775
0.000264901
854357
chrX:106878138:C>T
PRPS1
NM_002764:c.123-4387C>T
INTRON1
Unknown significance
rs764933023
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
0
524
0
0
764
0
1
718
0.0014
1
3775
0.000264901
854358
chrX:106878178:C>T
PRPS1
NM_002764:c.123-4347C>T
INTRON1
Unknown significance
rs372725144
This variant is a VUS because it does not have enough information.
854359
chrX:106878237:->T
PRPS1
NM_002764:c.123-4288_123-4287insT
INTRON1
Unknown significance
rs772628145
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854360
chrX:106878245:T>C
PRPS1
NM_002764:c.123-4280T>C
INTRON1
Unknown significance
rs762458667
This variant is a VUS because it does not have enough information.
0
1003
0
2
766
0.0026
1
524
0.0019
0
764
0
1
718
0.0014
4
3775
0.0010596
854361
chrX:106878272:C>T
PRPS1
NM_002764:c.123-4253C>T
INTRON1
Unknown significance
rs766241716
This variant is a VUS because it does not have enough information.
2
1003
0.002
1
766
0.0013
1
524
0.0019
0
764
0
0
718
0
4
3775
0.0010596
854362
chrX:106878307:G>A
PRPS1
NM_002764:c.123-4218G>A
INTRON1
Unknown significance
rs751502881
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
0
524
0
0
764
0
1
718
0.0014
1
3775
0.000264901
854363
chrX:106878314:G>C
PRPS1
NM_002764:c.123-4211G>C
INTRON1
Unknown significance
rs746052519
This variant is a VUS because it does not have enough information.
854364
chrX:106878318:G>A
PRPS1
NM_002764:c.123-4207G>A
INTRON1
Unknown significance
rs754836548
This variant is a VUS because it does not have enough information.
0
1003
0
1
766
0.0013
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854365
chrX:106878322:C>T
PRPS1
NM_002764:c.123-4203C>T
INTRON1
Unknown significance
rs377248917
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
1
524
0.0019
0
764
0
0
718
0
2
3775
0.000529801
854366
chrX:106878334:G>A
PRPS1
NM_002764:c.123-4191G>A
INTRON1
Unknown significance
rs754112314
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854367
chrX:106878351:G>A
PRPS1
NM_002764:c.123-4174G>A
INTRON1
Benign
rs188101417
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
60
1003
0.0598
1
766
0.0013
2
524
0.0038
0
764
0
0
718
0
63
3775
0.0166887
854368
chrX:106878354:AGCCACCGTGCCCAGCGATA>-
PRPS1
NM_002764:c.123-4171_123-4152delAGCCACCGTGCCCAGCGATA
INTRON1
Benign
rs201578496
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
20
1003
0.0199
2
766
0.0026
19
524
0.0363
45
764
0.0589
5
718
0.007
91
3775
0.024106
854369
chrX:106878356:C>T
PRPS1
NM_002764:c.123-4169C>T
INTRON1
Unknown significance
rs750479526
This variant is a VUS because it does not have enough information.
0
1003
0
1
766
0.0013
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854370
chrX:106878369:C>T
PRPS1
NM_002764:c.123-4156C>T
INTRON1
Unknown significance
rs758489477
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
0
524
0
0
764
0
1
718
0.0014
1
3775
0.000264901
854371
chrX:106878428:T>C
PRPS1
NM_002764:c.123-4097T>C
INTRON1
Unknown significance
rs181484489
This variant is a VUS because it does not have enough information.
0
1003
0
1
766
0.0013
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854372
chrX:106878507:G>A
PRPS1
NM_002764:c.123-4018G>A
INTRON1
Unknown significance
rs750912126
This variant is a VUS because it does not have enough information.
854373
chrX:106878518:A>T
PRPS1
NM_002764:c.123-4007A>T
INTRON1
Unknown significance
rs374991635
This variant is a VUS because it does not have enough information.
854374
chrX:106878571:A>C
PRPS1
NM_002764:c.123-3954A>C
INTRON1
Unknown significance
rs150953574
This variant is a VUS because it does not have enough information.
3
1003
0.003
0
766
0
0
524
0
0
764
0
0
718
0
3
3775
0.000794702
854375
chrX:106878625:C>T
PRPS1
NM_002764:c.123-3900C>T
INTRON1
Benign
rs73522890
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
219
1003
0.2183
1
766
0.0013
16
524
0.0305
0
764
0
0
718
0
236
3775
0.0625166
854376
chrX:106878639:A>G
PRPS1
NM_002764:c.123-3886A>G
INTRON1
Benign
rs5962868
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
22
1003
0.0219
0
766
0
2
524
0.0038
0
764
0
0
718
0
24
3775
0.00635762
854377
chrX:106878676:->T
PRPS1
NM_002764:c.123-3849_123-3848insT
INTRON1
Benign
rs748484157
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
222
1003
0.2213
19
766
0.0248
68
524
0.1298
48
764
0.0628
70
718
0.0975
427
3775
0.113113
854378
chrX:106878676:->TT
PRPS1
NM_002764:c.123-3849_123-3848insTT
INTRON1
Benign
rs748484157
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
218
1003
0.2173
1
766
0.0013
10
524
0.0191
3
764
0.0039
4
718
0.0056
236
3775
0.0625166
854379
chrX:106878676:->TTTT
PRPS1
NM_002764:c.123-3849_123-3848insTTTT
INTRON1
Unknown significance
rs748484157
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854380
chrX:106878676:T>-
PRPS1
NM_002764:c.123-3849delT
INTRON1
Unknown significance
rs769800664
This variant is a VUS because it does not have enough information.
854381
chrX:106878704:C>G
PRPS1
NM_002764:c.123-3821C>G
INTRON1
Benign
rs189754915
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1003
0
4
766
0.0052
0
524
0
0
764
0
0
718
0
4
3775
0.0010596
854382
chrX:106878706:C>G
PRPS1
NM_002764:c.123-3819C>G
INTRON1
Benign
rs149666552
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
64
1003
0.0638
1
766
0.0013
2
524
0.0038
0
764
0
0
718
0
67
3775
0.0177483
854383
chrX:106878785:C>T
PRPS1
NM_002764:c.123-3740C>T
INTRON1
Unknown significance
rs369420289
This variant is a VUS because it does not have enough information.
854384
chrX:106878798:A>G
PRPS1
NM_002764:c.123-3727A>G
INTRON1
Unknown significance
rs754244641
This variant is a VUS because it does not have enough information.
854385
chrX:106878823:A>G
PRPS1
NM_002764:c.123-3702A>G
INTRON1
Benign
rs73249852
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
20
1003
0.0199
221
766
0.2885
67
524
0.1279
39
764
0.051
43
718
0.0599
390
3775
0.103311
854386
chrX:106878882:C>T
PRPS1
NM_002764:c.123-3643C>T
INTRON1
Unknown significance
rs775692710
This variant is a VUS because it does not have enough information.
854387
chrX:106878891:T>C
PRPS1
NM_002764:c.123-3634T>C
INTRON1
Unknown significance
rs759451608
This variant is a VUS because it does not have enough information.
0
1003
0
1
766
0.0013
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854388
chrX:106878897:G>A
PRPS1
NM_002764:c.123-3628G>A
INTRON1
Unknown significance
rs777299439
This variant is a VUS because it does not have enough information.
854389
chrX:106878944:C>T
PRPS1
NM_002764:c.123-3581C>T
INTRON1
Unknown significance
rs181894823
This variant is a VUS because it does not have enough information.
0
1003
0
1
766
0.0013
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854390
chrX:106879025:T>A
PRPS1
NM_002764:c.123-3500T>A
INTRON1
Unknown significance
rs752488676
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
1
524
0.0019
0
764
0
1
718
0.0014
2
3775
0.000529801
854391
chrX:106879026:C>A
PRPS1
NM_002764:c.123-3499C>A
INTRON1
Unknown significance
rs760400412
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
1
524
0.0019
0
764
0
1
718
0.0014
2
3775
0.000529801
854392
chrX:106879045:C>T
PRPS1
NM_002764:c.123-3480C>T
INTRON1
Unknown significance
rs765431742
This variant is a VUS because it does not have enough information.
0
1003
0
1
766
0.0013
0
524
0
0
764
0
1
718
0.0014
2
3775
0.000529801
854393
chrX:106879072:C>T
PRPS1
NM_002764:c.123-3453C>T
INTRON1
Benign
rs373175062
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
11
1003
0.011
0
766
0
0
524
0
0
764
0
0
718
0
11
3775
0.00291391
854394
chrX:106879105:A>G
PRPS1
NM_002764:c.123-3420A>G
INTRON1
Unknown significance
rs185828952
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
1
524
0.0019
0
764
0
0
718
0
1
3775
0.000264901
854395
chrX:106879114:C>-
PRPS1
NM_002764:c.123-3411delC
INTRON1
Benign
rs200264830
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
228
1003
0.2273
1
766
0.0013
9
524
0.0172
3
764
0.0039
6
718
0.0084
247
3775
0.0654305
854396
chrX:106879204:C>T
PRPS1
NM_002764:c.123-3321C>T
INTRON1
Benign
rs190926438
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1003
0
29
766
0.0379
7
524
0.0134
0
764
0
6
718
0.0084
42
3775
0.0111258
854397
chrX:106879215:G>A
PRPS1
NM_002764:c.123-3310G>A
INTRON1
Unknown significance
rs755573363
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
0
524
0
0
764
0
1
718
0.0014
1
3775
0.000264901
854398
chrX:106879221:T>G
PRPS1
NM_002764:c.123-3304T>G
INTRON1
Unknown significance
rs781737393
This variant is a VUS because it does not have enough information.
1
1003
0.001
3
766
0.0039
0
524
0
2
764
0.0026
2
718
0.0028
8
3775
0.00211921
854399
chrX:106879245:G>A
PRPS1
NM_002764:c.123-3280G>A
INTRON1
Benign
rs376913780
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
5
1003
0.005
0
766
0
0
524
0
0
764
0
0
718
0
5
3775
0.0013245
854400
chrX:106879267:C>T
PRPS1
NM_002764:c.123-3258C>T
INTRON1
Benign
rs181723083
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
206
1003
0.2054
1
766
0.0013
7
524
0.0134
3
764
0.0039
6
718
0.0084
223
3775
0.0590728
854401
chrX:106879299:A>C
PRPS1
NM_002764:c.123-3226A>C
INTRON1
Benign
rs777356985
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
22
1003
0.0219
1
766
0.0013
0
524
0
0
764
0
0
718
0
23
3775
0.00609272
854402
chrX:106879301:A>C
PRPS1
NM_002764:c.123-3224A>C
INTRON1
Unknown significance
rs748942542
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
2
524
0.0038
0
764
0
0
718
0
2
3775
0.000529801
854403
chrX:106879304:A>C
PRPS1
NM_002764:c.123-3221A>C
INTRON1
Unknown significance
rs201751847
This variant is a VUS because it does not have enough information.
854404
chrX:106879347:T>A
PRPS1
NM_002764:c.123-3178T>A
INTRON1
Unknown significance
rs59904555
This variant is a VUS because it does not have enough information.
854405
chrX:106879361:T>C
PRPS1
NM_002764:c.123-3164T>C
INTRON1
Benign
rs140723505
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
32
1003
0.0319
1
766
0.0013
0
524
0
0
764
0
0
718
0
33
3775
0.00874172
854406
chrX:106879361:T>G
PRPS1
NM_002764:c.123-3164T>G
INTRON1
Unknown significance
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
2
524
0.0038
0
764
0
0
718
0
2
3775
0.000529801
854407
chrX:106879376:G>A
PRPS1
NM_002764:c.123-3149G>A
INTRON1
Unknown significance
rs772006987
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
0
524
0
1
764
0.0013
0
718
0
2
3775
0.000529801
854408
chrX:106879384:G>A
PRPS1
NM_002764:c.123-3141G>A
INTRON1
Benign
rs113802590
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1003
0
22
766
0.0287
4
524
0.0076
1
764
0.0013
9
718
0.0125
36
3775
0.00953642
854409
chrX:106879384:G>T
PRPS1
NM_002764:c.123-3141G>T
INTRON1
Unknown significance
rs113802590
This variant is a VUS because it does not have enough information.
854410
chrX:106879388:T>C
PRPS1
NM_002764:c.123-3137T>C
INTRON1
Unknown significance
rs760450929
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
0
524
0
0
764
0
1
718
0.0014
2
3775
0.000529801
854411
chrX:106879402:G>T
PRPS1
NM_002764:c.123-3123G>T
INTRON1
Unknown significance
rs763916436
This variant is a VUS because it does not have enough information.
0
1003
0
1
766
0.0013
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854412
chrX:106879439:G>A
PRPS1
NM_002764:c.123-3086G>A
INTRON1
Benign
rs190639554
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1003
0
12
766
0.0157
0
524
0
0
764
0
0
718
0
12
3775
0.00317881
854413
chrX:106879474:C>T
PRPS1
NM_002764:c.123-3051C>T
INTRON1
Unknown significance
rs763258140
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
0
524
0
0
764
0
1
718
0.0014
1
3775
0.000264901
854414
chrX:106879509:C>T
PRPS1
NM_002764:c.123-3016C>T
INTRON1
Unknown significance
rs182761573
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
0
524
0
1
764
0.0013
0
718
0
1
3775
0.000264901
854415
chrX:106879546:C>T
PRPS1
NM_002764:c.123-2979C>T
INTRON1
Benign
rs186485143
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
5
1003
0.005
0
766
0
0
524
0
0
764
0
0
718
0
5
3775
0.0013245
854416
chrX:106879551:T>C
PRPS1
NM_002764:c.123-2974T>C
INTRON1
Benign
rs145869180
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
39
1003
0.0389
1
766
0.0013
2
524
0.0038
0
764
0
0
718
0
42
3775
0.0111258
854417
chrX:106879601:T>G
PRPS1
NM_002764:c.123-2924T>G
INTRON1
Benign
rs5962869
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
231
1003
0.2303
1
766
0.0013
9
524
0.0172
3
764
0.0039
6
718
0.0084
250
3775
0.0662252
854418
chrX:106879634:G>A
PRPS1
NM_002764:c.123-2891G>A
INTRON1
Benign
rs753253435
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1003
0
0
766
0
0
524
0
0
764
0
5
718
0.007
5
3775
0.0013245
854419
chrX:106879641:C>T
PRPS1
NM_002764:c.123-2884C>T
INTRON1
Unknown significance
rs191417002
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854420
chrX:106879642:G>A
PRPS1
NM_002764:c.123-2883G>A
INTRON1
Benign
rs141340480
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1003
0
0
766
0
0
524
0
40
764
0.0524
0
718
0
40
3775
0.010596
854421
chrX:106879649:C>G
PRPS1
NM_002764:c.123-2876C>G
INTRON1
Unknown significance
rs749570109
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
0
524
0
0
764
0
1
718
0.0014
1
3775
0.000264901
854422
chrX:106879663:A>T
PRPS1
NM_002764:c.123-2862A>T
INTRON1
Unknown significance
rs756969417
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854423
chrX:106879744:T>-
PRPS1
NM_002764:c.123-2781delT
INTRON1
Unknown significance
rs778474958
This variant is a VUS because it does not have enough information.
0
1003
0
1
766
0.0013
1
524
0.0019
1
764
0.0013
2
718
0.0028
5
3775
0.0013245
854424
chrX:106879797:T>C
PRPS1
NM_002764:c.123-2728T>C
INTRON1
Unknown significance
rs769699724
This variant is a VUS because it does not have enough information.
854425
chrX:106879870:A>G
PRPS1
NM_002764:c.123-2655A>G
INTRON1
Unknown significance
rs745436730
This variant is a VUS because it does not have enough information.
0
1003
0
1
766
0.0013
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854426
chrX:106879887:C>A
PRPS1
NM_002764:c.123-2638C>A
INTRON1
Unknown significance
rs143310878
This variant is a VUS because it does not have enough information.
0
1003
0
3
766
0.0039
0
524
0
0
764
0
1
718
0.0014
4
3775
0.0010596
854427
chrX:106879955:G>T
PRPS1
NM_002764:c.123-2570G>T
INTRON1
Unknown significance
rs183186635
This variant is a VUS because it does not have enough information.
0
1003
0
1
766
0.0013
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854428
chrX:106879968:A>G
PRPS1
NM_002764:c.123-2557A>G
INTRON1
Benign
rs148324130
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1003
0
10
766
0.0131
1
524
0.0019
0
764
0
1
718
0.0014
12
3775
0.00317881
854429
chrX:106879984:G>C
PRPS1
NM_002764:c.123-2541G>C
INTRON1
Unknown significance
rs774445249
This variant is a VUS because it does not have enough information.
854430
chrX:106880005:G>T
PRPS1
NM_002764:c.123-2520G>T
INTRON1
Unknown significance
rs768420605
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
0
524
0
0
764
0
1
718
0.0014
1
3775
0.000264901
854431
chrX:106880065:G>A
PRPS1
NM_002764:c.123-2460G>A
INTRON1
Unknown significance
rs776491429
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
0
524
0
1
764
0.0013
0
718
0
1
3775
0.000264901
854432
chrX:106880077:T>C
PRPS1
NM_002764:c.123-2448T>C
INTRON1
Unknown significance
rs762042244
This variant is a VUS because it does not have enough information.
854433
chrX:106880090:G>T
PRPS1
NM_002764:c.123-2435G>T
INTRON1
Unknown significance
rs187391300
This variant is a VUS because it does not have enough information.
2
1003
0.002
0
766
0
0
524
0
0
764
0
0
718
0
2
3775
0.000529801
854434
chrX:106880113:T>C
PRPS1
NM_002764:c.123-2412T>C
INTRON1
Unknown significance
rs766729633
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
1
524
0.0019
0
764
0
0
718
0
1
3775
0.000264901
854435
chrX:106880115:C>G
PRPS1
NM_002764:c.123-2410C>G
INTRON1
Unknown significance
rs772072973
This variant is a VUS because it does not have enough information.
854436
chrX:106880151:T>C
PRPS1
NM_002764:c.123-2374T>C
INTRON1
Unknown significance
rs774691877
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
1
524
0.0019
0
764
0
1
718
0.0014
3
3775
0.000794702
854437
chrX:106880155:A>C
PRPS1
NM_002764:c.123-2370A>C
INTRON1
Unknown significance
rs370479557
This variant is a VUS because it does not have enough information.
854438
chrX:106880157:T>C
PRPS1
NM_002764:c.123-2368T>C
INTRON1
Unknown significance
rs773309543
This variant is a VUS because it does not have enough information.
854439
chrX:106880182:A>G
PRPS1
NM_002764:c.123-2343A>G
INTRON1
Unknown significance
rs192530289
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
0
524
0
1
764
0.0013
0
718
0
2
3775
0.000529801
854440
chrX:106880217:T>C
PRPS1
NM_002764:c.123-2308T>C
INTRON1
Unknown significance
rs767699234
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
0
524
0
0
764
0
1
718
0.0014
1
3775
0.000264901
854441
chrX:106880225:->TAT
PRPS1
NM_002764:c.123-2300_123-2299insTAT
INTRON1
Unknown significance
rs753198935
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854442
chrX:106880262:A>G
PRPS1
NM_002764:c.123-2263A>G
INTRON1
Benign
rs7886132
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
256
1003
0.2552
3
766
0.0039
60
524
0.1145
34
764
0.0445
39
718
0.0543
392
3775
0.103841
854443
chrX:106880304:TGT>-
PRPS1
NM_002764:c.123-2221_123-2219delTGT
INTRON1
Unknown significance
rs757643117
This variant is a VUS because it does not have enough information.
854444
chrX:106880312:G>A
PRPS1
NM_002764:c.123-2213G>A
INTRON1
Benign
rs150826893
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
5
1003
0.005
1
766
0.0013
43
524
0.0821
34
764
0.0445
39
718
0.0543
122
3775
0.0323179
854445
chrX:106880318:T>C
PRPS1
NM_002764:c.123-2207T>C
INTRON1
Unknown significance
rs754332850
This variant is a VUS because it does not have enough information.
854446
chrX:106880334:T>A
PRPS1
NM_002764:c.123-2191T>A
INTRON1
Unknown significance
rs568114648
This variant is a VUS because it does not have enough information.
854447
chrX:106880338:A>C
PRPS1
NM_002764:c.123-2187A>C
INTRON1
Unknown significance
rs754256062
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
0
524
0
0
764
0
1
718
0.0014
1
3775
0.000264901
854448
chrX:106880339:A>T
PRPS1
NM_002764:c.123-2186A>T
INTRON1
Unknown significance
rs759996554
This variant is a VUS because it does not have enough information.
854449
chrX:106880355:C>T
PRPS1
NM_002764:c.123-2170C>T
INTRON1
Unknown significance
rs757544212
This variant is a VUS because it does not have enough information.
3
1003
0.003
0
766
0
0
524
0
0
764
0
1
718
0.0014
4
3775
0.0010596
854450
chrX:106880394:T>A
PRPS1
NM_002764:c.123-2131T>A
INTRON1
Unknown significance
rs183283933
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
0
524
0
1
764
0.0013
0
718
0
1
3775
0.000264901
854451
chrX:106880415:C>T
PRPS1
NM_002764:c.123-2110C>T
INTRON1
Unknown significance
rs187933931
This variant is a VUS because it does not have enough information.
0
1003
0
1
766
0.0013
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854452
chrX:106880420:A>G
PRPS1
NM_002764:c.123-2105A>G
INTRON1
Unknown significance
rs370752684
This variant is a VUS because it does not have enough information.
854453
chrX:106880484:A>C
PRPS1
NM_002764:c.123-2041A>C
INTRON1
Unknown significance
rs765588411
This variant is a VUS because it does not have enough information.
854454
chrX:106880507:G>A
PRPS1
NM_002764:c.123-2018G>A
INTRON1
Benign
rs192462989
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1003
0
0
766
0
5
524
0.0095
0
764
0
0
718
0
5
3775
0.0013245
854455
chrX:106880649:A>G
PRPS1
NM_002764:c.123-1876A>G
INTRON1
Benign
rs138261844
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
61
1003
0.0608
1
766
0.0013
2
524
0.0038
0
764
0
0
718
0
64
3775
0.0169536
854456
chrX:106880683:T>C
PRPS1
NM_002764:c.123-1842T>C
INTRON1
Unknown significance
rs780618725
This variant is a VUS because it does not have enough information.
854457
chrX:106880685:A>G
PRPS1
NM_002764:c.123-1840A>G
INTRON1
Unknown significance
rs746439481
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854458
chrX:106880751:A>G
PRPS1
NM_002764:c.123-1774A>G
INTRON1
Unknown significance
rs749919993
This variant is a VUS because it does not have enough information.
854459
chrX:106880810:C>T
PRPS1
NM_002764:c.123-1715C>T
INTRON1
Unknown significance
rs768671101
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
0
524
0
0
764
0
1
718
0.0014
1
3775
0.000264901
854460
chrX:106880848:C>A
PRPS1
NM_002764:c.123-1677C>A
INTRON1
Unknown significance
rs776383737
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
0
524
0
1
764
0.0013
0
718
0
1
3775
0.000264901
854461
chrX:106880923:A>T
PRPS1
NM_002764:c.123-1602A>T
INTRON1
Unknown significance
rs756110655
This variant is a VUS because it does not have enough information.
854462
chrX:106880943:G>A
PRPS1
NM_002764:c.123-1582G>A
INTRON1
Benign
rs748024617
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1003
0
0
766
0
0
524
0
0
764
0
5
718
0.007
5
3775
0.0013245
854463
chrX:106881009:T>G
PRPS1
NM_002764:c.123-1516T>G
INTRON1
Benign
rs16985261
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
228
1003
0.2273
1
766
0.0013
9
524
0.0172
3
764
0.0039
6
718
0.0084
247
3775
0.0654305
854464
chrX:106881081:T>C
PRPS1
NM_002764:c.123-1444T>C
INTRON1
Unknown significance
rs774779711
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
0
524
0
1
764
0.0013
0
718
0
1
3775
0.000264901
854465
chrX:106881160:->AT
PRPS1
NM_002764:c.123-1365_123-1364insAT
INTRON1
Unknown significance
rs796383314
This variant is a VUS because it does not have enough information.
854466
chrX:106881176:A>T
PRPS1
NM_002764:c.123-1349A>T
INTRON1
Benign
rs759817033
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
45
1003
0.0449
1
766
0.0013
0
524
0
0
764
0
0
718
0
46
3775
0.0121854
854467
chrX:106881178:A>-
PRPS1
NM_002764:c.123-1347delA
INTRON1
Unknown significance
rs200547919
This variant is a VUS because it does not have enough information.
854468
chrX:106881178:A>T
PRPS1
NM_002764:c.123-1347A>T
INTRON1
Benign
rs184457141
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
105
1003
0.1047
3
766
0.0039
9
524
0.0172
2
764
0.0026
9
718
0.0125
128
3775
0.0339073
854469
chrX:106881180:A>T
PRPS1
NM_002764:c.123-1345A>T
INTRON1
Benign
rs7887547
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
663
1003
0.661
299
766
0.3903
177
524
0.3378
201
764
0.2631
215
718
0.2994
1555
3775
0.411921
854470
chrX:106881182:T>A
PRPS1
NM_002764:c.123-1343T>A
INTRON1
Benign
rs60559960
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
215
1003
0.2144
6
766
0.0078
18
524
0.0344
0
764
0
6
718
0.0084
245
3775
0.0649007
854471
chrX:106881262:C>T
PRPS1
NM_002764:c.123-1263C>T
INTRON1
Unknown significance
rs764715587
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
0
524
0
1
764
0.0013
0
718
0
1
3775
0.000264901
854472
chrX:106881309:C>T
PRPS1
NM_002764:c.123-1216C>T
INTRON1
Benign
rs147425497
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
18
1003
0.0179
0
766
0
5
524
0.0095
0
764
0
0
718
0
23
3775
0.00609272
854473
chrX:106881333:T>C
PRPS1
NM_002764:c.123-1192T>C
INTRON1
Unknown significance
rs184335222
This variant is a VUS because it does not have enough information.
0
1003
0
1
766
0.0013
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854474
chrX:106881336:T>-
PRPS1
NM_002764:c.123-1189delT
INTRON1
Unknown significance
rs57348912
This variant is a VUS because it does not have enough information.
854475
chrX:106881339:T>G
PRPS1
NM_002764:c.123-1186T>G
INTRON1
Unknown significance
rs765575661
This variant is a VUS because it does not have enough information.
0
1003
0
1
766
0.0013
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854476
chrX:106881348:A>T
PRPS1
NM_002764:c.123-1177A>T
INTRON1
Unknown significance
rs750730977
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
0
524
0
2
764
0.0026
1
718
0.0014
3
3775
0.000794702
854477
chrX:106881362:C>T
PRPS1
NM_002764:c.123-1163C>T
INTRON1
Unknown significance
rs758052169
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
0
524
0
1
764
0.0013
0
718
0
1
3775
0.000264901
854478
chrX:106881363:G>A
PRPS1
NM_002764:c.123-1162G>A
INTRON1
Unknown significance
rs779642170
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
0
524
0
1
764
0.0013
0
718
0
1
3775
0.000264901
854479
chrX:106881392:C>T
PRPS1
NM_002764:c.123-1133C>T
INTRON1
Benign
rs112965644
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
29
1003
0.0289
0
766
0
1
524
0.0019
0
764
0
0
718
0
30
3775
0.00794702
854480
chrX:106881584:C>T
PRPS1
NM_002764:c.123-941C>T
INTRON1
Unknown significance
rs181913459
This variant is a VUS because it does not have enough information.
854481
chrX:106881619:G>A
PRPS1
NM_002764:c.123-906G>A
INTRON1
Unknown significance
rs779971354
This variant is a VUS because it does not have enough information.
854482
chrX:106881753:C>G
PRPS1
NM_002764:c.123-772C>G
INTRON1
Unknown significance
rs754423996
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854483
chrX:106881765:C>T
PRPS1
NM_002764:c.123-760C>T
INTRON1
Unknown significance
rs781229093
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
1
524
0.0019
0
764
0
0
718
0
1
3775
0.000264901
854484
chrX:106881805:T>A
PRPS1
NM_002764:c.123-720T>A
INTRON1
Unknown significance
rs12854967
This variant is a VUS because it does not have enough information.
854485
chrX:106881815:T>G
PRPS1
NM_002764:c.123-710T>G
INTRON1
Unknown significance
rs12854983
This variant is a VUS because it does not have enough information.
854486
chrX:106881867:T>-
PRPS1
NM_002764:c.123-658delT
INTRON1
Unknown significance
rs750708928
This variant is a VUS because it does not have enough information.
854487
chrX:106881895:C>T
PRPS1
NM_002764:c.123-630C>T
INTRON1
Unknown significance
rs186400784
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854488
chrX:106881899:C>G
PRPS1
NM_002764:c.123-626C>G
INTRON1
Unknown significance
rs769767405
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
0
524
0
0
764
0
1
718
0.0014
1
3775
0.000264901
854489
chrX:106881907:C>T
PRPS1
NM_002764:c.123-618C>T
INTRON1
Unknown significance
rs749166704
This variant is a VUS because it does not have enough information.
854490
chrX:106881939:C>G
PRPS1
NM_002764:c.123-586C>G
INTRON1
Unknown significance
rs777721203
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854491
chrX:106881954:->TATTT
PRPS1
NM_002764:c.123-571_123-570insTATTT
INTRON1
Benign
rs749021712
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
18
1003
0.0179
0
766
0
1
524
0.0019
0
764
0
0
718
0
19
3775
0.00503311
854492
chrX:106881954:->TATTTTATTT
PRPS1
NM_002764:c.123-571_123-570insTATTTTATTT
INTRON1
Benign
rs749021712
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
6
1003
0.006
0
766
0
0
524
0
0
764
0
0
718
0
6
3775
0.0015894
854493
chrX:106881954:TATTT>-
PRPS1
NM_002764:c.123-571_123-567delTATTT
INTRON1
Unknown significance
rs758517960
This variant is a VUS because it does not have enough information.
854494
chrX:106881968:T>C
PRPS1
NM_002764:c.123-557T>C
INTRON1
Unknown significance
rs768354851
This variant is a VUS because it does not have enough information.
854495
chrX:106882046:T>C
PRPS1
NM_002764:c.123-479T>C
INTRON1
Unknown significance
rs778725410
This variant is a VUS because it does not have enough information.
854496
chrX:106882048:C>T
PRPS1
NM_002764:c.123-477C>T
INTRON1
Benign
rs775521805
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1003
0
0
766
0
0
524
0
0
764
0
4
718
0.0056
4
3775
0.0010596
854497
chrX:106882077:C>T
PRPS1
NM_002764:c.123-448C>T
INTRON1
Unknown significance
rs748356756
This variant is a VUS because it does not have enough information.
854498
chrX:106882108:G>A
PRPS1
NM_002764:c.123-417G>A
INTRON1
Benign
rs760853439
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1003
0
0
766
0
0
524
0
0
764
0
4
718
0.0056
4
3775
0.0010596
854499
chrX:106882182:C>T
PRPS1
NM_002764:c.123-343C>T
INTRON1
Unknown significance
rs768618401
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854500
chrX:106882184:C>T
PRPS1
NM_002764:c.123-341C>T
INTRON1
Benign
rs777255715
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
5
1003
0.005
0
766
0
0
524
0
0
764
0
0
718
0
5
3775
0.0013245
854501
chrX:106882185:G>T
PRPS1
NM_002764:c.123-340G>T
INTRON1
Unknown significance
rs190557438
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854502
chrX:106882259:C>T
PRPS1
NM_002764:c.123-266C>T
INTRON1
Benign
rs181077764
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1003
0
0
766
0
0
524
0
10
764
0.0131
0
718
0
10
3775
0.00264901
854503
chrX:106882275:C>T
PRPS1
NM_002764:c.123-250C>T
INTRON1
Benign
rs750818907
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
6
1003
0.006
0
766
0
0
524
0
0
764
0
0
718
0
6
3775
0.0015894
854504
chrX:106882296:C>T
PRPS1
NM_002764:c.123-229C>T
INTRON1
Unknown significance
rs763255133
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
0
524
0
2
764
0.0026
0
718
0
2
3775
0.000529801
854505
chrX:106882326:C>T
PRPS1
NM_002764:c.123-199C>T
INTRON1
Benign
rs368386568
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
1
1003
0.001
0
766
0
1
524
0.0019
4
764
0.0052
1
718
0.0014
7
3775
0.0018543
854506
chrX:106882327:G>A
PRPS1
NM_002764:c.123-198G>A
INTRON1
Unknown significance
rs773495942
This variant is a VUS because it does not have enough information.
854507
chrX:106882344:T>A
PRPS1
NM_002764:c.123-181T>A
INTRON1
Unknown significance
rs760844833
This variant is a VUS because it does not have enough information.
854508
chrX:106882373:A>C
PRPS1
NM_002764:c.123-152A>C
INTRON1
Benign
rs751139553
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1003
0
0
766
0
0
524
0
0
764
0
4
718
0.0056
4
3775
0.0010596
854509
chrX:106882478:T>C
PRPS1
NM_002764:c.123-47T>C
INTRON1
Unknown significance
rs370316413
This variant is a VUS because it does not have enough information.
1
6728
0.000148633
0
3835
0
1
10563
0.0000946701
0
8496
0
0
9319
0
0
6637
0
0
4530
0
1
47972
0.0000208455
0
633
0
0
10120
0
1
87707
0.0000114016
854510
chrX:106882478:T>G
PRPS1
NM_002764:c.123-47T>G
INTRON1
Unknown significance
rs370316413
This variant is a VUS because it does not have enough information.
0
8496
0
0
9319
0
0
6637
0
0
4530
0
5
47972
0.000104227
0
633
0
0
10120
0
5
87707
0.000057008
854511
chrX:106882489:A>G
PRPS1
NM_002764:c.123-36A>G
INTRON1
Benign
rs373779872
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
8
6728
0.00118906
1
3835
0.000260756
9
10563
0.000852031
0
1003
0
0
766
0
3
524
0.0057
0
764
0
0
718
0
3
3775
0.000794702
1
8498
0.000117675
6
9321
0.000643708
0
6638
0
0
4530
0
50
47982
0.00104206
0
633
0
1
10122
0.0000987947
58
87724
0.000661165
854512
chrX:106882495:T>G
PRPS1
NM_002764:c.123-30T>G
INTRON1
Unknown significance
rs367746767
This variant is a VUS because it does not have enough information.
2
6728
0.000297265
0
3835
0
2
10563
0.00018934
0
8504
0
0
9321
0
0
6638
0
0
4530
0
2
47990
0.0000416753
0
633
0
0
10123
0
2
87739
0.0000227949
854513
chrX:106882500:C>T
PRPS1
NM_002764:c.123-25C>T
INTRON1
Unknown significance
rs201020362
This variant is a VUS because it does not have enough information.
854514
chrX:106882507:->T
PRPS1
NM_002764:c.123-18_123-17insT
INTRON1
Unknown significance
rs750392051
This variant is a VUS because it does not have enough information.
854515
chrX:106882525:T>C
PRPS1
NM_002764:p.Ser41Ser
NM_002764:c.123T>C
EXON2
Unknown significance
rs777304127
This variant is a VUS because it does not have enough information.
854516
chrX:106882531:A>C
PRPS1
NM_002764:p.Glu43Asp
NM_002764:c.129A>C
EXON2
Pathogenic
Rosenberg-Chutorian syndrome
20301731,20301532,17701900
rs80338731
Pathogenicity is based on ClinVar submissions and the literature provided in PubMed.
0.23
N
0.091;0.166
T
0.002
B
0
D
0.999544
A;A
2.24
C
854517
chrX:106882556:G>C
PRPS1
NM_002764:p.Asp52His
NM_002764:c.154G>C
EXON2
Pathogenic
Phosphoribosylpyrophosphate synthetase superactivity
171280,7593598,20301734,23509005
rs137852542
Pathogenicity is based on ClinVar submissions and the literature provided in PubMed.
1.048
C
0.0;0.01
D
1.0
D
0
D
1
A;A
4.7
C
854518
chrX:106882579:T>A
PRPS1
NM_002764:p.Gly59Gly
NM_002764:c.177T>A
EXON2
Unknown significance
rs147896410
This variant is a VUS because it does not have enough information.
1
6728
0.000148633
0
3835
0
1
10563
0.0000946701
0
8516
0
0
9324
0
0
6638
0
0
4530
0
1
47999
0.0000208338
0
633
0
0
10124
0
1
87764
0.0000113942
854520
chrX:106882585:C>A
PRPS1
NM_002764:p.Gly61Gly
NM_002764:c.183C>A
EXON2
Unknown significance
rs371538576
This variant is a VUS because it does not have enough information.
0
8516
0
0
9324
0
1
6638
0.000150648
0
4530
0
0
47999
0
0
633
0
0
10124
0
1
87764
0.0000113942
854519
chrX:106882585:C>T
PRPS1
NM_002764:p.Gly61Gly
NM_002764:c.183C>T
EXON2
Unknown significance
rs371538576
This variant is a VUS because it does not have enough information.
1
6728
0.000148633
1
3835
0.000260756
2
10563
0.00018934
1
8516
0.000117426
0
9324
0
0
6638
0
0
4530
0
1
47999
0.0000208338
0
633
0
0
10124
0
2
87764
0.0000227884
854521
chrX:106882586:G>A
PRPS1
NM_002764:p.Glu62Lys
NM_002764:c.184G>A
EXON2
Unknown significance
rs773719662
This variant is a VUS because it does not have enough information.
1.048
C
0.195;0.165
T
0.792
P
0.00001
D
0.999999
D;D
4.5
C
0
8516
0
0
9324
0
0
6638
0
0
4530
0
1
47999
0.0000208338
0
633
0
0
10124
0
1
87764
0.0000113942
854522
chrX:106882595:G>A
PRPS1
NM_002764:p.Asp65Asn
NM_002764:c.193G>A
EXON2
Pathogenic
Sensorineural deafness, nonsyndromic
20021999,20301607,21834172
rs180177151
Pathogenicity is based on ClinVar submissions and the literature provided in PubMed.
1.048
C
0.119;0.057
T
0.181
B
0
D
1
A;A;A
4.5
C
854523
chrX:106882645:A>G
PRPS1
NM_002764:p.Ser81Ser
NM_002764:c.243A>G
EXON2
Unknown significance
rs780551723
This variant is a VUS because it does not have enough information.
0
1003
0
1
766
0.0013
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
0
8507
0
0
9324
0
0
6638
0
0
4530
0
1
47994
0.0000208359
0
633
0
0
10123
0
1
87749
0.0000113961
854524
chrX:106882650:G>T
PRPS1
NM_002764:p.Ser83Ile
NM_002764:c.248G>T
EXON2
Unknown significance
rs767243595
This variant is a VUS because it does not have enough information.
1.048
C
0.026;0.077;0.011
D;T;D
0.688
P
0.000001
D
0.99965
D;D;D;D
4.5
C
854525
chrX:106882651:C>T
PRPS1
NM_002764:p.Ser83Ser
NM_002764:c.249C>T
EXON2
Unknown significance
rs750054054
This variant is a VUS because it does not have enough information.
1
8498
0.000117675
0
9324
0
0
6638
0
0
4530
0
0
47994
0
0
633
0
0
10120
0
1
87737
0.0000113977
854526
chrX:106882661:G>A
PRPS1
NM_002764:p.Ala87Thr
NM_002764:c.259G>A
EXON2
Pathogenic
Sensorineural deafness, nonsyndromic
20021999,20301607,8968763,21834172
rs180177152
Pathogenicity is based on ClinVar submissions and the literature provided in PubMed.
1.048
C
0.017;0.016;0.021
D
0.987
D
0
D
1
A;A;A;A;A
4.5
C
854527
chrX:106882663:A>C
PRPS1
NM_002764:p.Ala87Ala
NM_002764:c.261A>C
EXON2
Unknown significance
rs755850703
This variant is a VUS because it does not have enough information.
0
8489
0
1
9323
0.000107262
0
6638
0
0
4530
0
0
47992
0
0
633
0
0
10120
0
1
87725
0.0000113993
854528
chrX:106882672:A>C
PRPS1
NM_002764:p.Pro90Pro
NM_002764:c.270A>C
EXON2
Unknown significance
rs766786656
This variant is a VUS because it does not have enough information.
1
8478
0.000117952
0
9323
0
0
6638
0
0
4530
0
0
47974
0
0
633
0
0
10120
0
1
87696
0.000011403
854529
chrX:106882672:A>T
PRPS1
NM_002764:p.Pro90Pro
NM_002764:c.270A>T
EXON2
Unknown significance
rs766786656
This variant is a VUS because it does not have enough information.
0
8478
0
0
9323
0
0
6638
0
0
4530
0
1
47974
0.0000208446
0
633
0
0
10120
0
1
87696
0.000011403
854530
chrX:106882690:G>A
PRPS1
NM_002764:p.Arg96Arg
NM_002764:c.288G>A
EXON2
Unknown significance
rs752194539
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
0
524
0
2
764
0.0026
0
718
0
2
3775
0.000529801
0
8375
0
0
9317
0
25
6633
0.00376903
0
4529
0
0
47919
0
0
630
0
0
10114
0
25
87517
0.000285659
854531
chrX:106882709:->A
PRPS1
NM_002764:c.306+1_306+2insA
INTRON2
Unknown significance
rs755093762
This variant is a VUS because it does not have enough information.
854532
chrX:106882709:->AGCCGGGCGCCAATCTCAGCCAAGCTT
PRPS1
NM_002764:c.306+1_306+2insAGCCGGGCGCCAATCTCAGCCAAGCTT
INTRON2
Unknown significance
rs755093762
This variant is a VUS because it does not have enough information.
854533
chrX:106882709:->AGCCGGGCGCCAATCTCAGCCAAGCTTGTTGCAAATATGCTATCT
PRPS1
NM_002764:c.306+1_306+2insAGCCGGGCGCCAATCTCAGCCAAGCTTGTTGCAAATATGCTATCT
INTRON2
Unknown significance
rs755093762
This variant is a VUS because it does not have enough information.
854534
chrX:106882710:->CCGGGCGCCAATCTCAGCCAAGCTTGTTGCAAATATGC
PRPS1
NM_002764:c.306+2_306+3insCCGGGCGCCAATCTCAGCCAAGCTTGTTGCAAATATGC
INTRON2
Unknown significance
rs758657216
This variant is a VUS because it does not have enough information.
854535
chrX:106882726:->T
PRPS1
NM_002764:c.306+18_306+19insT
INTRON2
Unknown significance
rs777885394
This variant is a VUS because it does not have enough information.
0
8109
0
0
9265
0
0
6557
0
0
4520
0
1
47536
0.0000210367
0
629
0
0
10083
0
1
86699
0.0000115342
854536
chrX:106882803:G>T
PRPS1
NM_002764:c.306+95G>T
INTRON2
Unknown significance
rs11797233
This variant is a VUS because it does not have enough information.
854537
chrX:106882884:C>T
PRPS1
NM_002764:c.306+176C>T
INTRON2
Unknown significance
rs760049067
This variant is a VUS because it does not have enough information.
854538
chrX:106882909:G>A
PRPS1
NM_002764:c.306+201G>A
INTRON2
Unknown significance
rs372166721
This variant is a VUS because it does not have enough information.
854539
chrX:106882909:G>C
PRPS1
NM_002764:c.306+201G>C
INTRON2
Unknown significance
rs372166721
This variant is a VUS because it does not have enough information.
854540
chrX:106882979:C>T
PRPS1
NM_002764:c.306+271C>T
INTRON2
Unknown significance
rs567661963
This variant is a VUS because it does not have enough information.
2
1003
0.002
0
766
0
0
524
0
0
764
0
0
718
0
2
3775
0.000529801
854541
chrX:106883012:C>T
PRPS1
NM_002764:c.306+304C>T
INTRON2
Unknown significance
rs761433252
This variant is a VUS because it does not have enough information.
854542
chrX:106883107:->ATAG
PRPS1
NM_002764:c.306+399_306+400insATAG
INTRON2
Benign
rs777809064
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
30
1003
0.0299
0
766
0
3
524
0.0057
0
764
0
1
718
0.0014
34
3775
0.00900662
854543
chrX:106883107:ATAG>-
PRPS1
NM_002764:c.306+399_306+402delATAG
INTRON2
Unknown significance
rs749112922
This variant is a VUS because it does not have enough information.
2
1003
0.002
0
766
0
0
524
0
2
764
0.0026
0
718
0
4
3775
0.0010596
854544
chrX:106883127:A>G
PRPS1
NM_002764:c.306+419A>G
INTRON2
Unknown significance
rs112061305
This variant is a VUS because it does not have enough information.
854545
chrX:106883183:A>G
PRPS1
NM_002764:c.306+475A>G
INTRON2
Benign
rs113432416
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
29
1003
0.0289
0
766
0
2
524
0.0038
0
764
0
0
718
0
31
3775
0.00821192
854546
chrX:106883216:C>A
PRPS1
NM_002764:c.306+508C>A
INTRON2
Unknown significance
rs780394440
This variant is a VUS because it does not have enough information.
0
1003
0
1
766
0.0013
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854547
chrX:106883236:C>T
PRPS1
NM_002764:c.306+528C>T
INTRON2
Benign
rs143984346
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1003
0
1
766
0.0013
0
524
0
17
764
0.0223
0
718
0
18
3775
0.00476821
854548
chrX:106883237:G>A
PRPS1
NM_002764:c.306+529G>A
INTRON2
Benign
rs148639312
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
50
1003
0.0499
0
766
0
3
524
0.0057
0
764
0
0
718
0
53
3775
0.0140397
854549
chrX:106883252:T>G
PRPS1
NM_002764:c.306+544T>G
INTRON2
Unknown significance
rs765822776
This variant is a VUS because it does not have enough information.
854550
chrX:106883291:G>A
PRPS1
NM_002764:c.306+583G>A
INTRON2
Benign
rs142094002
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
19
1003
0.0189
0
766
0
0
524
0
0
764
0
0
718
0
19
3775
0.00503311
854551
chrX:106883306:C>T
PRPS1
NM_002764:c.306+598C>T
INTRON2
Benign
rs186057710
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
27
1003
0.0269
1
766
0.0013
0
524
0
0
764
0
0
718
0
28
3775
0.00741722
854552
chrX:106883339:C>T
PRPS1
NM_002764:c.306+631C>T
INTRON2
Unknown significance
rs770308633
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
0
524
0
0
764
0
1
718
0.0014
1
3775
0.000264901
854553
chrX:106883386:G>A
PRPS1
NM_002764:c.306+678G>A
INTRON2
Unknown significance
rs773687656
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854554
chrX:106883389:G>A
PRPS1
NM_002764:c.306+681G>A
INTRON2
Unknown significance
rs763348546
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854555
chrX:106883404:T>G
PRPS1
NM_002764:c.306+696T>G
INTRON2
Unknown significance
rs766648581
This variant is a VUS because it does not have enough information.
0
1003
0
1
766
0.0013
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854556
chrX:106883432:C>T
PRPS1
NM_002764:c.307-700C>T
INTRON2
Unknown significance
rs191234504
This variant is a VUS because it does not have enough information.
0
1003
0
3
766
0.0039
0
524
0
0
764
0
0
718
0
3
3775
0.000794702
854557
chrX:106883433:G>A
PRPS1
NM_002764:c.307-699G>A
INTRON2
Unknown significance
rs376728633
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
0
524
0
1
764
0.0013
0
718
0
1
3775
0.000264901
854558
chrX:106883433:G>C
PRPS1
NM_002764:c.307-699G>C
INTRON2
Unknown significance
rs376728633
This variant is a VUS because it does not have enough information.
854559
chrX:106883438:G>A
PRPS1
NM_002764:c.307-694G>A
INTRON2
Unknown significance
rs182507328
This variant is a VUS because it does not have enough information.
0
1003
0
2
766
0.0026
0
524
0
0
764
0
0
718
0
2
3775
0.000529801
854560
chrX:106883442:C>T
PRPS1
NM_002764:c.307-690C>T
INTRON2
Unknown significance
rs752284346
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
1
524
0.0019
0
764
0
0
718
0
1
3775
0.000264901
854561
chrX:106883454:C>A
PRPS1
NM_002764:c.307-678C>A
INTRON2
Unknown significance
rs367607000
This variant is a VUS because it does not have enough information.
854562
chrX:106883457:A>G
PRPS1
NM_002764:c.307-675A>G
INTRON2
Unknown significance
rs113057540
This variant is a VUS because it does not have enough information.
854563
chrX:106883487:G>A
PRPS1
NM_002764:c.307-645G>A
INTRON2
Unknown significance
rs778618665
This variant is a VUS because it does not have enough information.
854564
chrX:106883504:A>G
PRPS1
NM_002764:c.307-628A>G
INTRON2
Unknown significance
rs112257441
This variant is a VUS because it does not have enough information.
854565
chrX:106883507:G>A
PRPS1
NM_002764:c.307-625G>A
INTRON2
Unknown significance
rs755633573
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854566
chrX:106883575:->A
PRPS1
NM_002764:c.307-557_307-556insA
INTRON2
Unknown significance
rs759522021
This variant is a VUS because it does not have enough information.
854567
chrX:106883688:G>A
PRPS1
NM_002764:c.307-444G>A
INTRON2
Unknown significance
rs747973583
This variant is a VUS because it does not have enough information.
854568
chrX:106883713:C>G
PRPS1
NM_002764:c.307-419C>G
INTRON2
Unknown significance
rs758065373
This variant is a VUS because it does not have enough information.
854569
chrX:106883738:C>G
PRPS1
NM_002764:c.307-394C>G
INTRON2
Unknown significance
rs764172370
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
0
524
0
0
764
0
3
718
0.0042
3
3775
0.000794702
854570
chrX:106883782:G>A
PRPS1
NM_002764:c.307-350G>A
INTRON2
Unknown significance
rs778157677
This variant is a VUS because it does not have enough information.
854571
chrX:106883802:A>G
PRPS1
NM_002764:c.307-330A>G
INTRON2
Unknown significance
rs186181815
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
1
524
0.0019
0
764
0
0
718
0
1
3775
0.000264901
854572
chrX:106883803:A>C
PRPS1
NM_002764:c.307-329A>C
INTRON2
Unknown significance
rs757137560
This variant is a VUS because it does not have enough information.
0
1003
0
2
766
0.0026
0
524
0
0
764
0
0
718
0
2
3775
0.000529801
854573
chrX:106883860:A>G
PRPS1
NM_002764:c.307-272A>G
INTRON2
Unknown significance
rs778589733
This variant is a VUS because it does not have enough information.
0
1003
0
1
766
0.0013
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854574
chrX:106883962:G>T
PRPS1
NM_002764:c.307-170G>T
INTRON2
Benign
rs17847389
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
5
1003
0.005
1
766
0.0013
44
524
0.084
34
764
0.0445
39
718
0.0543
123
3775
0.0325828
854575
chrX:106883998:G>-
PRPS1
NM_002764:c.307-134delG
INTRON2
Unknown significance
rs60316832
This variant is a VUS because it does not have enough information.
854576
chrX:106884025:A>G
PRPS1
NM_002764:c.307-107A>G
INTRON2
Unknown significance
rs190505754
This variant is a VUS because it does not have enough information.
0
1003
0
2
766
0.0026
0
524
0
0
764
0
0
718
0
2
3775
0.000529801
854577
chrX:106884026:T>C
PRPS1
NM_002764:c.307-106T>C
INTRON2
Unknown significance
rs41300247
This variant is a VUS because it does not have enough information.
0
1003
0
1
766
0.0013
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854578
chrX:106884046:G>A
PRPS1
NM_002764:c.307-86G>A
INTRON2
Unknown significance
rs748276680
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854579
chrX:106884057:A>G
PRPS1
NM_002764:c.307-75A>G
INTRON2
Benign
rs769832506
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
5
1003
0.005
0
766
0
0
524
0
0
764
0
0
718
0
5
3775
0.0013245
854580
chrX:106884081:T>A
PRPS1
NM_002764:c.307-51T>A
INTRON2
Unknown significance
rs374952552
This variant is a VUS because it does not have enough information.
0
6726
0
1
3835
0.000260756
1
10561
0.000094688
854581
chrX:106884095:T>-
PRPS1
NM_002764:c.307-37delT
INTRON2
Unknown significance
rs747340670
This variant is a VUS because it does not have enough information.
0
8288
0
0
9315
0
0
6629
0
0
4523
0
1
47861
0.0000208938
0
631
0
0
10120
0
1
87367
0.000011446
854582
chrX:106884095:T>C
PRPS1
NM_002764:c.307-37T>C
INTRON2
Unknown significance
rs779526573
This variant is a VUS because it does not have enough information.
854583
chrX:106884101:G>C
PRPS1
NM_002764:c.307-31G>C
INTRON2
Unknown significance
rs182983731
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
0
524
0
1
764
0.0013
0
718
0
1
3775
0.000264901
0
8318
0
0
9317
0
18
6631
0.00271452
0
4526
0
0
47866
0
0
632
0
0
10119
0
18
87409
0.000205928
854584
chrX:106884103:T>C
PRPS1
NM_002764:c.307-29T>C
INTRON2
Unknown significance
rs758465030
This variant is a VUS because it does not have enough information.
0
8336
0
1
9317
0.000107331
0
6631
0
0
4526
0
0
47872
0
0
632
0
0
10120
0
1
87434
0.0000114372
854585
chrX:106884105:T>C
PRPS1
NM_002764:c.307-27T>C
INTRON2
Unknown significance
rs368218592
This variant is a VUS because it does not have enough information.
1
6728
0.000148633
0
3835
0
1
10563
0.0000946701
0
8340
0
0
9318
0
0
6633
0
0
4527
0
2
47880
0.0000417711
0
632
0
0
10120
0
2
87450
0.0000228702
854586
chrX:106884106:T>G
PRPS1
NM_002764:c.307-26T>G
INTRON2
Unknown significance
rs747178513
This variant is a VUS because it does not have enough information.
854587
chrX:106884107:C>T
PRPS1
NM_002764:c.307-25C>T
INTRON2
Unknown significance
rs771144683
This variant is a VUS because it does not have enough information.
854588
chrX:106884112:C>T
PRPS1
NM_002764:c.307-20C>T
INTRON2
Unknown significance
rs775258743
This variant is a VUS because it does not have enough information.
854589
chrX:106884124:C>T
PRPS1
NM_002764:c.307-8C>T
INTRON2
Unknown significance
rs749164598
This variant is a VUS because it does not have enough information.
0
8445
0
0
9323
0
1
6638
0.000150648
0
4530
0
0
47938
0
0
632
0
0
10125
0
1
87631
0.0000114115
854590
chrX:106884127:T>-
PRPS1
NM_002764:c.307-5delT
INTRON2
Unknown significance
rs771206190
This variant is a VUS because it does not have enough information.
0
8458
0
0
9323
0
0
6638
0
0
4530
0
1
47943
0.0000208581
0
632
0
0
10125
0
1
87649
0.0000114091
854591
chrX:106884140:G>A
PRPS1
NM_002764:p.Ala105Ala
NM_002764:c.315G>A
EXON3
Unknown significance
rs768455048
This variant is a VUS because it does not have enough information.
0
8508
0
0
9324
0
0
6638
0
0
4530
0
1
47978
0.0000208429
0
633
0
0
10125
0
1
87736
0.0000113978
854592
chrX:106884160:T>C
PRPS1
NM_002764:p.Val112Ala
NM_002764:c.335T>C
EXON3
Unknown significance
rs11541075
This variant is a VUS because it does not have enough information.
1.061
C
0.0
D
0.988
D
0
D
0.999999
D;D;D
4.75
C
854593
chrX:106884161:T>C
PRPS1
NM_002764:p.Val112Val
NM_002764:c.336T>C
EXON3
Benign
Arts syndrome; Arts Syndrome
20301738
rs80338674
Pathogenicity is based on ClinVar submissions. All submitters agree with this pathogenicity.
854594
chrX:106884162:G>T
PRPS1
NM_002764:p.Ala113Ser
NM_002764:c.337G>T
EXON3
Pathogenic
Hearing loss, non-syndromic
20301607,25182139,21834172
rs587781261
Pathogenicity is based on ClinVar submissions and the literature provided in PubMed.
1.048
C
0.0
D
1.0
D
0
D
1
D;D;D
4.75
C
854595
chrX:106884166:A>G
PRPS1
NM_002764:p.Asn114Ser
NM_002764:c.341A>G
EXON3
Pathogenic
Phosphoribosylpyrophosphate synthetase superactivity
8253776,7593598,20301734,2423135,1664177
rs137852540
Pathogenicity is based on ClinVar submissions and the literature provided in PubMed.
1.199
C
0.002;0.001
D
0.68
P
0
D
0.999976
A;A;A;A;A
4.75
C
854596
chrX:106884168:A>G
PRPS1
NM_002764:p.Met115Val
NM_002764:c.343A>G
EXON3
Pathogenic
20301607,25182139,20301532,20301731,21834172
rs587781262
Pathogenicity is based on ClinVar submissions and the literature provided in PubMed.
1.199
C
0.001;0.002
D
0.497
P
0
D
0.99998
D;D;D
4.75
C
854597
chrX:106884169:T>C
PRPS1
NM_002764:p.Met115Thr
NM_002764:c.344T>C
EXON3
Pathogenic
Charcot-Marie-Tooth disease 5
20301731,20301532,17701900
rs80338732
Pathogenicity is based on ClinVar submissions and the literature provided in PubMed.
1.061
C
0.0
D
0.972
D
0
D
0.999992
A;A;A;A
3.58
C
854598
chrX:106884173:A>G
PRPS1
NM_002764:p.Leu116Leu
NM_002764:c.348A>G
EXON3
Unknown significance
rs774382720
This variant is a VUS because it does not have enough information.
0
8516
0
3
9324
0.00032175
0
6638
0
0
4530
0
0
47996
0
0
633
0
0
10125
0
3
87762
0.0000341834
854599
chrX:106884187:C>G
PRPS1
NM_002764:p.Ala121Gly
NM_002764:c.362C>G
EXON3
Pathogenic
Charcot-Marie-Tooth disease 5
24285972,20301731,20301532
Pathogenicity is based on ClinVar submissions and the literature provided in PubMed.
0.935
N
0.0
D
0.875
P
0
D
0.999861
D;D;D
3.88
C
854600
chrX:106884210:C>A
PRPS1
NM_002764:p.Leu129Ile
NM_002764:c.385C>A
EXON3
Pathogenic
Phosphoribosylpyrophosphate synthetase superactivity
7593598,20301734
rs137852543
Pathogenicity is based on ClinVar submissions and the literature provided in PubMed.
0.935
N
0.001;0.0
D
0.982
D
0.000001
D
0.997099
A;A;A;A;A
3.05
C
854601
chrX:106884223:A>C
PRPS1
NM_002764:p.Gln133Pro
NM_002764:c.398A>C
EXON3
Pathogenic
Phosphoribosylpyrophosphate synthetase deficiency
20301738,17701896
rs80338675
Pathogenicity is based on ClinVar submissions and the literature provided in PubMed.
1.199
C
0.0
D
0.997
D
0
D
1
A;A;A;A
4.84
C
854602
chrX:106884238:T>A
PRPS1
NM_002764:c.405+8T>A
INTRON3
Unknown significance
rs761682942
This variant is a VUS because it does not have enough information.
0.144
N
0.002
D
1
D;N;N
3.91
C
0
8509
0
0
9312
0
0
6629
0
0
4528
0
0
47913
0
0
632
0
1
10091
0.0000990982
1
87614
0.0000114137
854603
chrX:106884253:G>T
PRPS1
NM_002764:c.405+23G>T
INTRON3
Unknown significance
rs767084172
This variant is a VUS because it does not have enough information.
-0.248
N
0.214
T
1
N;N;N;N;N
0.844
C
0
8477
0
0
9247
0
0
6558
0
0
4515
0
1
47464
0.0000210686
0
628
0
0
9975
0
1
86864
0.0000115122
854604
chrX:106884285:A>G
PRPS1
NM_002764:c.405+55A>G
INTRON3
Unknown significance
rs772859341
This variant is a VUS because it does not have enough information.
0.237
N
0.0
D
1
N;N;N;N;N
-1.24
N
0
8222
0
1
8523
0.00011733
0
6094
0
0
4282
0
0
43653
0
0
588
0
0
9371
0
1
80733
0.0000123865
854605
chrX:106884319:C>T
PRPS1
NM_002764:c.405+89C>T
INTRON3
Unknown significance
rs760403126
This variant is a VUS because it does not have enough information.
0.789
N
0.0
D
1
N;N;N;N;N
2.5
C
0
6960
0
0
5659
0
0
4605
0
0
3584
0
1
32498
0.0000307711
0
474
0
0
7938
0
1
61718
0.0000162027
854606
chrX:106884332:A>T
PRPS1
NM_002764:c.405+102A>T
INTRON3
Unknown significance
rs766195011
This variant is a VUS because it does not have enough information.
1.006
C
1
N;N;N;N;N
-9.75
N
0
6129
0
0
4395
0
0
3732
0
0
3134
0
1
26601
0.0000375926
0
421
0
0
7172
0
1
51584
0.0000193859
854607
chrX:106884334:A>G
PRPS1
NM_002764:c.405+104A>G
INTRON3
Unknown significance
rs749779821
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
0
524
0
0
764
0
1
718
0.0014
1
3775
0.000264901
854608
chrX:106884342:G>T
PRPS1
NM_002764:c.405+112G>T
INTRON3
Unknown significance
rs755413640
This variant is a VUS because it does not have enough information.
0
5429
0
0
3212
0
3
2993
0.00100234
0
2727
0
0
21922
0
0
359
0
0
6551
0
3
43193
0.0000694557
854609
chrX:106884346:T>C
PRPS1
NM_002764:c.405+116T>C
INTRON3
Unknown significance
rs765552257
This variant is a VUS because it does not have enough information.
0
5077
0
0
2715
0
1
2741
0.00036483
0
2590
0
0
20211
0
0
346
0
0
6300
0
1
39980
0.0000250125
854610
chrX:106884347:C>T
PRPS1
NM_002764:c.405+117C>T
INTRON3
Unknown significance
rs753199324
This variant is a VUS because it does not have enough information.
1
5075
0.000197044
0
2673
0
0
2724
0
0
2577
0
0
20062
0
0
345
0
0
6272
0
1
39728
0.0000251712
854611
chrX:106884353:->CATT
PRPS1
NM_002764:c.405+123_405+124insCATT
INTRON3
Unknown significance
rs747112610
This variant is a VUS because it does not have enough information.
854613
chrX:106884381:C>A
PRPS1
NM_002764:c.405+151C>A
INTRON3
Unknown significance
rs771409227
This variant is a VUS because it does not have enough information.
0
2715
0
0
673
0
0
1052
0
0
1755
0
0
10811
0
0
245
0
2
5036
0.000397141
2
22287
0.0000897384
854612
chrX:106884381:C>T
PRPS1
NM_002764:c.405+151C>T
INTRON3
Unknown significance
rs771409227
This variant is a VUS because it does not have enough information.
0
1003
0
1
766
0.0013
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
0
2715
0
0
673
0
0
1052
0
0
1755
0
1
10811
0.0000924984
0
245
0
0
5036
0
1
22287
0.0000448692
854614
chrX:106884382:T>G
PRPS1
NM_002764:c.405+152T>G
INTRON3
Unknown significance
rs747156350
This variant is a VUS because it does not have enough information.
0
2731
0
0
681
0
0
1059
0
0
1756
0
1
10830
0.0000923361
0
241
0
0
5052
0
1
22350
0.0000447427
854615
chrX:106884461:C>A
PRPS1
NM_002764:c.405+231C>A
INTRON3
Unknown significance
rs775783311
This variant is a VUS because it does not have enough information.
854616
chrX:106884521:T>-
PRPS1
NM_002764:c.405+291delT
INTRON3
Benign
rs774581026
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1003
0
0
766
0
0
524
0
0
764
0
4
718
0.0056
4
3775
0.0010596
854618
chrX:106884526:C>G
PRPS1
NM_002764:c.405+296C>G
INTRON3
Benign
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1003
0
0
766
0
0
524
0
0
764
0
4
718
0.0056
4
3775
0.0010596
854617
chrX:106884526:C>T
PRPS1
NM_002764:c.405+296C>T
INTRON3
Unknown significance
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854619
chrX:106884535:G>A
PRPS1
NM_002764:c.405+305G>A
INTRON3
Benign
rs59783882
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1003
0
1
766
0.0013
1
524
0.0019
85
764
0.1113
36
718
0.0501
123
3775
0.0325828
854620
chrX:106884540:T>C
PRPS1
NM_002764:c.405+310T>C
INTRON3
Unknown significance
rs763687524
This variant is a VUS because it does not have enough information.
0
1003
0
0
766
0
0
524
0
1
764
0.0013
0
718
0
1
3775
0.000264901
854621
chrX:106884542:A>C
PRPS1
NM_002764:c.405+312A>C
INTRON3
Unknown significance
rs764384343
This variant is a VUS because it does not have enough information.
854622
chrX:106884561:T>C
PRPS1
NM_002764:c.405+331T>C
INTRON3
Unknown significance
rs753343045
This variant is a VUS because it does not have enough information.
1
1003
0.001
0
766
0
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854623
chrX:106884618:C>G
PRPS1
NM_002764:c.405+388C>G
INTRON3
Unknown significance
rs188957036
This variant is a VUS because it does not have enough information.
0
1003
0
1
766
0.0013
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854624
chrX:106884649:G>A
PRPS1
NM_002764:c.405+419G>A
INTRON3
Unknown significance
rs765183525
This variant is a VUS because it does not have enough information.
0
1003
0
1
766
0.0013
0
524
0
0
764
0
0
718
0
1
3775
0.000264901
854625
chrX:106884676:C>T
PRPS1
NM_002764:c.405+446C>T
INTRON3
Unknown significance
rs369157421
This variant is a VUS because it does not have enough information.
854626
chrX:106884740:C>A
PRPS1
NM_002764:c.405+510C>A
INTRON3
Unknown significance
rs372971913
This variant is a VUS because it does not have enough information.
854627
chrX:106884742:->G
PRPS1
NM_002764:c.405+512_405+513insG
INTRON3
Unknown significance
rs35584843
This variant is a VUS because it does not have enough information.
854628
chrX:106884786:->C
PRPS1
NM_002764:c.405+556_405+557insC
INTRON3
Unknown significance
rs34566376
This variant is a VUS because it does not have enough information.
854629
chrX:106884807:C>T
PRPS1
NM_002764:c.405+