ClinVar Miner

List of variants in gene COL4A5 reported as pathogenic for X-linked disease

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 226
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HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val) rs104886192 0.00017
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308 0.00002
NM_033380.3(COL4A5):c.1276G>A (p.Gly426Arg) rs104886111 0.00001
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser) rs104886237 0.00001
NM_033380.3(COL4A5):c.4315+1G>A rs587776403 0.00001
COL4A5, 10-15-KB INS, 40-KB DEL
GRCh37/hg19 Xq22.3(chrX:107683053-107940795)
GRCh37/hg19 Xq22.3(chrX:107683356-107683436)
GRCh37/hg19 Xq22.3(chrX:107802035-107802303)
Multiple alleles
NG_011977.2:g.(239831_242576)_(252772_257824)del
NG_011977.2:g.(246966_251107)_?del
NG_011977.2:g.?_(146097_162513)del
NM_000495.5(COL4A5):c.321+5G>A rs2147746317
NM_033380.2(COL4A5):c.[866G>T;4282C>T]
NM_033380.3(COL4A5):c.1001G>A (p.Gly334Asp) rs104886093
NM_033380.3(COL4A5):c.1010G>T (p.Gly337Val) rs869025334
NM_033380.3(COL4A5):c.1033-1G>A rs2066339336
NM_033380.3(COL4A5):c.1033-2A>G rs2147787964
NM_033380.3(COL4A5):c.107C>A (p.Ser36Ter)
NM_033380.3(COL4A5):c.1094G>A (p.Gly365Glu) rs104886096
NM_033380.3(COL4A5):c.1117C>T (p.Arg373Ter) rs104886094
NM_033380.3(COL4A5):c.1120G>A (p.Gly374Arg) rs2066342176
NM_033380.3(COL4A5):c.1132_1138del (p.Ile378fs) rs1569492147
NM_033380.3(COL4A5):c.1138G>T (p.Gly380Cys) rs2066342908
NM_033380.3(COL4A5):c.1217G>T (p.Gly406Val) rs104886100
NM_033380.3(COL4A5):c.1226G>A (p.Gly409Asp) rs104886101
NM_033380.3(COL4A5):c.1235G>A (p.Gly412Glu) rs104886102
NM_033380.3(COL4A5):c.1340-2A>G rs104886319
NM_033380.3(COL4A5):c.1374delinsTT (p.Pro459fs) rs2147798059
NM_033380.3(COL4A5):c.1376dup (p.Gly460fs) rs104886113
NM_033380.3(COL4A5):c.1402C>T (p.Gln468Ter) rs1603287820
NM_033380.3(COL4A5):c.141+1G>A rs2065509989
NM_033380.3(COL4A5):c.1418_1419del (p.Val473fs) rs2147798228
NM_033380.3(COL4A5):c.1423G>A (p.Gly475Ser) rs281874667
NM_033380.3(COL4A5):c.1424-20T>A rs281874668
NM_033380.3(COL4A5):c.1424-2A>C rs759179999
NM_033380.3(COL4A5):c.1480G>T (p.Gly494Cys) rs1569493662
NM_033380.3(COL4A5):c.1481del (p.Gly494fs)
NM_033380.3(COL4A5):c.1483dup (p.Gln495fs) rs1556411631
NM_033380.3(COL4A5):c.153del (p.Pro53fs) rs2147722166
NM_033380.3(COL4A5):c.1545_1546del (p.Glu516fs) rs2147809078
NM_033380.3(COL4A5):c.1561G>T (p.Gly521Cys) rs104886121
NM_033380.3(COL4A5):c.1562G>A (p.Gly521Asp) rs104886122
NM_033380.3(COL4A5):c.1589G>A (p.Gly530Asp) rs281874671
NM_033380.3(COL4A5):c.160G>C (p.Gly54Arg)
NM_033380.3(COL4A5):c.161G>A (p.Gly54Asp) rs104886043
NM_033380.3(COL4A5):c.1648dup (p.Ile550fs) rs1603290131
NM_033380.3(COL4A5):c.1673G>A (p.Gly558Asp) rs1603290148
NM_033380.3(COL4A5):c.1690G>T (p.Gly564Cys) rs281874674
NM_033380.3(COL4A5):c.1718G>T (p.Gly573Val)
NM_033380.3(COL4A5):c.1768A>T (p.Lys590Ter) rs368137679
NM_033380.3(COL4A5):c.1780-1G>T rs104886338
NM_033380.3(COL4A5):c.1807G>A (p.Gly603Ser) rs1603290681
NM_033380.3(COL4A5):c.1817G>A (p.Gly606Glu) rs2147813326
NM_033380.3(COL4A5):c.1843G>A (p.Gly615Arg) rs1569494304
NM_033380.3(COL4A5):c.1871G>T (p.Gly624Val) rs104886142
NM_033380.3(COL4A5):c.188dup (p.Phe64fs) rs1603276159
NM_033380.3(COL4A5):c.1902del (p.Gly635fs) rs1603290763
NM_033380.3(COL4A5):c.1904G>T (p.Gly635Val) rs281874683
NM_033380.3(COL4A5):c.1912G>A (p.Gly638Ser) rs104886147
NM_033380.3(COL4A5):c.1933C>T (p.Gln645Ter) rs1603290796
NM_033380.3(COL4A5):c.1976_1977del (p.Ile659fs) rs1603291770
NM_033380.3(COL4A5):c.1A>G (p.Met1Val) rs104886050
NM_033380.3(COL4A5):c.2016_2020dup (p.Asp674fs) rs2147819501
NM_033380.3(COL4A5):c.2039del (p.Pro680fs) rs2066627184
NM_033380.3(COL4A5):c.2048_2050del (p.Pro683_Gly684delinsArg) rs1603292021
NM_033380.3(COL4A5):c.2048del (p.Pro683fs) rs1060499694
NM_033380.3(COL4A5):c.2057del (p.Pro686fs) rs104886167
NM_033380.3(COL4A5):c.2087G>A (p.Gly696Asp) rs2147820991
NM_033380.3(COL4A5):c.2146G>A (p.Gly716Ser) rs104886161
NM_033380.3(COL4A5):c.2165G>A (p.Gly722Glu) rs104886163
NM_033380.3(COL4A5):c.2244+1G>T rs281874688
NM_033380.3(COL4A5):c.2245G>A (p.Gly749Ser)
NM_033380.3(COL4A5):c.225del (p.Gln76fs) rs1603276180
NM_033380.3(COL4A5):c.2288G>A (p.Gly763Glu) rs281874689
NM_033380.3(COL4A5):c.2300dup (p.Lys768fs) rs1603293553
NM_033380.3(COL4A5):c.2314G>A (p.Gly772Ser) rs1603293570
NM_033380.3(COL4A5):c.232-2A>G rs2065933012
NM_033380.3(COL4A5):c.2333G>A (p.Gly778Asp) rs2066736770
NM_033380.3(COL4A5):c.2359G>A (p.Gly787Arg) rs1603293605
NM_033380.3(COL4A5):c.2395+1G>A rs869025331
NM_033380.3(COL4A5):c.2395+2T>A rs1603293639
NM_033380.3(COL4A5):c.2396-1G>C rs886041509
NM_033380.3(COL4A5):c.2500G>C (p.Gly834Arg) rs281874696
NM_033380.3(COL4A5):c.2501G>T (p.Gly834Val) rs2147850123
NM_033380.3(COL4A5):c.2509+2T>G rs1569497030
NM_033380.3(COL4A5):c.2510-1G>T rs770451831
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_033380.3(COL4A5):c.2606G>T (p.Gly869Val) rs1603297334
NM_033380.3(COL4A5):c.2633G>A (p.Gly878Glu) rs104886199
NM_033380.3(COL4A5):c.2741G>A (p.Gly914Asp) rs869025332
NM_033380.3(COL4A5):c.2766del (p.Gly923fs) rs886039890
NM_033380.3(COL4A5):c.2804G>A (p.Gly935Asp) rs104886195
NM_033380.3(COL4A5):c.2833G>T (p.Glu945Ter) rs2147865716
NM_033380.3(COL4A5):c.2892_2899dup (p.Gly967fs) rs2067083148
NM_033380.3(COL4A5):c.2902dup (p.Glu968fs)
NM_033380.3(COL4A5):c.2917+1G>A rs104886371
NM_033380.3(COL4A5):c.2917+1G>C rs104886371
NM_033380.3(COL4A5):c.2917+2T>A
NM_033380.3(COL4A5):c.2918-1G>A rs104886372
NM_033380.3(COL4A5):c.2974C>T (p.Gln992Ter) rs2147869275
NM_033380.3(COL4A5):c.2T>A (p.Met1Lys) rs1569469409
NM_033380.3(COL4A5):c.3016+1G>A
NM_033380.3(COL4A5):c.3032del (p.Pro1011fs)
NM_033380.3(COL4A5):c.3088G>A (p.Gly1030Ser) rs104886210
NM_033380.3(COL4A5):c.3097G>T (p.Gly1033Cys)
NM_033380.3(COL4A5):c.3107G>A (p.Gly1036Glu) rs104886212
NM_033380.3(COL4A5):c.3119_3120delinsA (p.Val1040fs) rs2067151490
NM_033380.3(COL4A5):c.311del (p.Pro104fs) rs1603278993
NM_033380.3(COL4A5):c.3177del (p.Gly1060fs) rs1569499015
NM_033380.3(COL4A5):c.3178G>T (p.Gly1060Ter) rs104886217
NM_033380.3(COL4A5):c.3181C>T (p.Gln1061Ter) rs104886213
NM_033380.3(COL4A5):c.3196G>A (p.Gly1066Ser) rs104886219
NM_033380.3(COL4A5):c.3197G>A (p.Gly1066Asp) rs104886221
NM_033380.3(COL4A5):c.3197G>T (p.Gly1066Val) rs104886221
NM_033380.3(COL4A5):c.3206G>T (p.Gly1069Val) rs281874712
NM_033380.3(COL4A5):c.321+2T>G rs1603279005
NM_033380.3(COL4A5):c.322-1G>T rs104886375
NM_033380.3(COL4A5):c.3247-1G>A rs1569504056
NM_033380.3(COL4A5):c.3295del (p.Ser1099fs) rs1603306718
NM_033380.3(COL4A5):c.3314T>A (p.Leu1105Ter) rs1556439394
NM_033380.3(COL4A5):c.3319G>A (p.Gly1107Arg) rs104886225
NM_033380.3(COL4A5):c.3319G>T (p.Gly1107Ter) rs104886225
NM_033380.3(COL4A5):c.3410G>A (p.Gly1137Asp) rs1131691795
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser) rs104886228
NM_033380.3(COL4A5):c.3428G>A (p.Gly1143Asp) rs104886229
NM_033380.3(COL4A5):c.3455-9A>G rs104886388
NM_033380.3(COL4A5):c.3475C>T (p.Gln1159Ter) rs1603310370
NM_033380.3(COL4A5):c.347del (p.Pro116fs) rs2147746687
NM_033380.3(COL4A5):c.3481G>C (p.Gly1161Arg) rs104886235
NM_033380.3(COL4A5):c.3482G>A (p.Gly1161Glu) rs1603310380
NM_033380.3(COL4A5):c.3487_3488delinsG (p.Pro1163fs) rs1057516187
NM_033380.3(COL4A5):c.3511C>T (p.Gln1171Ter) rs2068084185
NM_033380.3(COL4A5):c.3604+2T>A rs1569505613
NM_033380.3(COL4A5):c.3650G>A (p.Gly1217Asp) rs1569505758
NM_033380.3(COL4A5):c.3659G>A (p.Gly1220Asp) rs104886251
NM_033380.3(COL4A5):c.3670G>T (p.Glu1224Ter) rs1290001124
NM_033380.3(COL4A5):c.367G>A (p.Gly123Arg) rs1569488426
NM_033380.3(COL4A5):c.3685G>A (p.Gly1229Ser) rs1569505771
NM_033380.3(COL4A5):c.3721G>T (p.Gly1241Cys) rs104886255
NM_033380.3(COL4A5):c.3731G>A (p.Gly1244Asp) rs104886261
NM_033380.3(COL4A5):c.3772G>A (p.Gly1258Ser) rs1603311030
NM_033380.3(COL4A5):c.3791-41A>G
NM_033380.3(COL4A5):c.3819_3881del (p.Pro1274_Gly1294del) rs1556451235
NM_033380.3(COL4A5):c.385-716G>A
NM_033380.3(COL4A5):c.385G>A (p.Gly129Arg) rs281874722
NM_033380.3(COL4A5):c.3920del (p.Asp1307fs) rs2068332131
NM_033380.3(COL4A5):c.3932dup (p.Gly1312fs) rs2147975121
NM_033380.3(COL4A5):c.4016-1G>A rs797045035
NM_033380.3(COL4A5):c.4055del (p.Pro1352fs) rs2147980448
NM_033380.3(COL4A5):c.4063del (p.Glu1355fs) rs1556453276
NM_033380.3(COL4A5):c.4088-2A>G
NM_033380.3(COL4A5):c.4119_4126del (p.Gln1373fs) rs2068436110
NM_033380.3(COL4A5):c.4197_4200delinsGGG (p.Pro1401fs) rs1603318154
NM_033380.3(COL4A5):c.4197del (p.Gly1400fs) rs1603318143
NM_033380.3(COL4A5):c.4217-1G>A rs587776402
NM_033380.3(COL4A5):c.4316-1G>T rs281874734
NM_033380.3(COL4A5):c.4316-20T>A rs2068567564
NM_033380.3(COL4A5):c.4342G>C (p.Gly1448Arg) rs104886276
NM_033380.3(COL4A5):c.4377del (p.Gly1460fs) rs1603323174
NM_033380.3(COL4A5):c.438+1G>A rs1603279819
NM_033380.3(COL4A5):c.439-1G>A rs2147754967
NM_033380.3(COL4A5):c.4432del (p.Asp1478fs)
NM_033380.3(COL4A5):c.4441C>T (p.Gln1481Ter) rs1603323278
NM_033380.3(COL4A5):c.446del (p.Pro149fs) rs104886054
NM_033380.3(COL4A5):c.4470T>G (p.Tyr1490Ter) rs1603323355
NM_033380.3(COL4A5):c.4528G>C (p.Gly1510Arg) rs2147991725
NM_033380.3(COL4A5):c.4543_4544insTTAG (p.Cys1515fs) rs1603326397
NM_033380.3(COL4A5):c.4628dup (p.Tyr1543Ter) rs2147998586
NM_033380.3(COL4A5):c.4631G>A (p.Trp1544Ter) rs104886293
NM_033380.3(COL4A5):c.4631G>C (p.Trp1544Ser) rs104886293
NM_033380.3(COL4A5):c.465+1G>A rs2066070056
NM_033380.3(COL4A5):c.465+2T>G rs2066070104
NM_033380.3(COL4A5):c.4706+1G>T rs1569508998
NM_033380.3(COL4A5):c.4706+2T>C rs2147998807
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln) rs281874743
NM_033380.3(COL4A5):c.4709G>C (p.Cys1570Ser) rs104886287
NM_033380.3(COL4A5):c.4749_4750del (p.His1583fs) rs1603328025
NM_033380.3(COL4A5):c.4763del (p.Gln1588fs) rs1057516203
NM_033380.3(COL4A5):c.4787G>A (p.Trp1596Ter) rs2148001657
NM_033380.3(COL4A5):c.4789del (p.Asp1597fs) rs1569509234
NM_033380.3(COL4A5):c.4809T>G (p.Tyr1603Ter) rs104886299
NM_033380.3(COL4A5):c.4822-10T>C
NM_033380.3(COL4A5):c.4822-1G>T rs1603328372
NM_033380.3(COL4A5):c.4900_4903del (p.Pro1634fs) rs886039886
NM_033380.3(COL4A5):c.4925_4986del (p.Gly1642fs) rs2068717187
NM_033380.3(COL4A5):c.4931G>A (p.Cys1644Tyr) rs104886302
NM_033380.3(COL4A5):c.4962G>A (p.Trp1654Ter) rs2068718016
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg) rs104886303
NM_033380.3(COL4A5):c.4978_4979insAAAA (p.Val1660fs) rs2148002538
NM_033380.3(COL4A5):c.5038C>T (p.Arg1680Ter) rs281874753
NM_033380.3(COL4A5):c.5047C>T (p.Arg1683Ter) rs104886306
NM_033380.3(COL4A5):c.530G>A (p.Gly177Asp) rs1569489328
NM_033380.3(COL4A5):c.546+1G>A rs104886429
NM_033380.3(COL4A5):c.546+2T>G rs2066101487
NM_033380.3(COL4A5):c.546+2dup rs1569489353
NM_033380.3(COL4A5):c.564_598del (p.Gly189fs)
NM_033380.3(COL4A5):c.569_570del (p.Ile190fs) rs1556405010
NM_033380.3(COL4A5):c.574G>T (p.Gly192Trp) rs104886060
NM_033380.3(COL4A5):c.584G>A (p.Gly195Asp) rs104886061
NM_033380.3(COL4A5):c.609+1G>A rs104886434
NM_033380.3(COL4A5):c.611G>A (p.Gly204Asp) rs104886063
NM_033380.3(COL4A5):c.647G>A (p.Gly216Glu) rs104886074
NM_033380.3(COL4A5):c.659T>A (p.Leu220Ter) rs2066183255
NM_033380.3(COL4A5):c.665T>G (p.Phe222Cys) rs281874761
NM_033380.3(COL4A5):c.687+1G>A rs104886440
NM_033380.3(COL4A5):c.687del (p.Gly230fs) rs1556405926
NM_033380.3(COL4A5):c.761_762del (p.Glu254fs) rs104886443
NM_033380.3(COL4A5):c.796C>T (p.Arg266Ter) rs104886071
NM_033380.3(COL4A5):c.799G>C (p.Gly267Arg) rs1603283567
NM_033380.3(COL4A5):c.82-1G>A
NM_033380.3(COL4A5):c.82G>T (p.Ala28Ser) rs869025333
NM_033380.3(COL4A5):c.834+2T>G rs1569490932
NM_033380.3(COL4A5):c.835-2A>G rs1556406859
NM_033380.3(COL4A5):c.835-9T>A
NM_033380.3(COL4A5):c.845dup (p.Gly283fs) rs2147776527
NM_033380.3(COL4A5):c.866G>A (p.Gly289Asp) rs104886450
NM_033380.3(COL4A5):c.874G>C (p.Gly292Arg) rs104886073
NM_033380.3(COL4A5):c.875del (p.Gly292fs) rs281874768
NM_033380.3(COL4A5):c.884G>A (p.Gly295Asp) rs104886079
NM_033380.3(COL4A5):c.917del (p.Asn306fs) rs2066237678
NM_033380.3(COL4A5):c.973G>A (p.Gly325Arg) rs104886088
NM_033380.3(COL4A5):c.973G>C (p.Gly325Arg) rs104886088
NM_033380.3(COL4A5):c.974G>A (p.Gly325Glu) rs104886091

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