ClinVar Miner

List of variants in gene COL4A4 reported as uncertain significance for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 287
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HGVS dbSNP
NC_000002.12:g.227164206G>A
NC_000002.12:g.227164546C>T
NM_000092.4(COL4A4):c.*1073del rs149522920
NM_000092.4(COL4A4):c.*1112G>A rs886055717
NM_000092.4(COL4A4):c.*1242C>T rs886055716
NM_000092.4(COL4A4):c.*128G>A rs886055722
NM_000092.4(COL4A4):c.*1346T>C rs55869005
NM_000092.4(COL4A4):c.*1349A>C rs886055715
NM_000092.4(COL4A4):c.*1423T>C rs886055714
NM_000092.4(COL4A4):c.*1687T>G rs538453112
NM_000092.4(COL4A4):c.*1802T>A rs886055713
NM_000092.4(COL4A4):c.*1914A>T rs886055712
NM_000092.4(COL4A4):c.*2033G>A rs886055711
NM_000092.4(COL4A4):c.*2069T>C rs886055710
NM_000092.4(COL4A4):c.*2119_*2120dup rs56983325
NM_000092.4(COL4A4):c.*2120dup rs56983325
NM_000092.4(COL4A4):c.*2259G>A rs886055708
NM_000092.4(COL4A4):c.*22C>A rs562265530
NM_000092.4(COL4A4):c.*2945T>C rs886055707
NM_000092.4(COL4A4):c.*3159C>A rs559222889
NM_000092.4(COL4A4):c.*321A>G rs886055721
NM_000092.4(COL4A4):c.*3269A>G rs185029960
NM_000092.4(COL4A4):c.*3299A>G rs886055706
NM_000092.4(COL4A4):c.*3410_*3411del rs528949461
NM_000092.4(COL4A4):c.*3461A>G rs886055705
NM_000092.4(COL4A4):c.*3467C>G rs752632630
NM_000092.4(COL4A4):c.*3639T>C rs193239835
NM_000092.4(COL4A4):c.*3712T>G rs535103151
NM_000092.4(COL4A4):c.*3876G>A rs184473858
NM_000092.4(COL4A4):c.*3938A>G rs192161029
NM_000092.4(COL4A4):c.*3940T>C rs886055704
NM_000092.4(COL4A4):c.*3948C>T rs886055703
NM_000092.4(COL4A4):c.*4004_*4005del rs532937469
NM_000092.4(COL4A4):c.*4102dup rs370056635
NM_000092.4(COL4A4):c.*4106C>A rs886055702
NM_000092.4(COL4A4):c.*4135A>T rs886055701
NM_000092.4(COL4A4):c.*4173A>T rs529259159
NM_000092.4(COL4A4):c.*4369C>T rs886055700
NM_000092.4(COL4A4):c.*4385A>G rs574071910
NM_000092.4(COL4A4):c.*4393G>T rs886055699
NM_000092.4(COL4A4):c.*4534T>C rs767613572
NM_000092.4(COL4A4):c.*4583A>G rs886055698
NM_000092.4(COL4A4):c.*48G>A rs767600758
NM_000092.4(COL4A4):c.*569C>A rs772402371
NM_000092.4(COL4A4):c.*755T>C rs191394048
NM_000092.4(COL4A4):c.*833C>T rs886055720
NM_000092.4(COL4A4):c.*857G>A rs80142712
NM_000092.4(COL4A4):c.*863C>G rs886055719
NM_000092.4(COL4A4):c.*864C>G rs886055718
NM_000092.4(COL4A4):c.-102+10C>G rs867845285
NM_000092.4(COL4A4):c.-134C>G rs530247030
NM_000092.4(COL4A4):c.-177G>A rs886055730
NM_000092.4(COL4A4):c.-341G>A rs886055731
NM_000092.4(COL4A4):c.-408G>A rs554839865
NM_000092.4(COL4A4):c.-527G>A rs886055732
NM_000092.4(COL4A4):c.-555G>A rs79908084
NM_000092.4(COL4A4):c.1129C>T (p.Arg377Cys) rs555143841
NM_000092.4(COL4A4):c.1205-9A>G rs370706928
NM_000092.4(COL4A4):c.1353C>T (p.Gly451=) rs199511948
NM_000092.4(COL4A4):c.1379G>A (p.Cys460Tyr) rs753659852
NM_000092.4(COL4A4):c.1396G>A (p.Gly466Arg) rs201859109
NM_000092.4(COL4A4):c.1435G>C (p.Gly479Arg) rs202210475
NM_000092.4(COL4A4):c.1767T>A (p.Asp589Glu) rs886055727
NM_000092.4(COL4A4):c.1820C>T (p.Ala607Val) rs373916569
NM_000092.4(COL4A4):c.1893A>G (p.Gly631=) rs370886041
NM_000092.4(COL4A4):c.190C>T (p.Arg64Trp) rs200668675
NM_000092.4(COL4A4):c.193-9C>G rs190570269
NM_000092.4(COL4A4):c.1963C>T (p.Pro655Ser) rs886055726
NM_000092.4(COL4A4):c.2045A>G (p.Asp682Gly) rs142093416
NM_000092.4(COL4A4):c.204_212del (p.67_69PGP[1]) rs764884579
NM_000092.4(COL4A4):c.2079C>T (p.Pro693=) rs200010601
NM_000092.4(COL4A4):c.2092G>A (p.Gly698Arg) rs1241404192
NM_000092.4(COL4A4):c.2138_2143dup (p.Gly713_Thr714dup) rs777985749
NM_000092.4(COL4A4):c.2152_2154dup (p.Pro718dup) rs1553644306
NM_000092.4(COL4A4):c.2159C>T (p.Pro720Leu) rs749186337
NM_000092.4(COL4A4):c.2171G>A (p.Arg724His) rs200146486
NM_000092.4(COL4A4):c.2335C>G (p.Pro779Ala) rs886055725
NM_000092.4(COL4A4):c.2378C>T (p.Ala793Val) rs377676207
NM_000092.4(COL4A4):c.2399C>G (p.Pro800Arg) rs200714000
NM_000092.4(COL4A4):c.2430C>G (p.Gly810=) rs769363556
NM_000092.4(COL4A4):c.2516C>T (p.Pro839Leu) rs199562472
NM_000092.4(COL4A4):c.2549C>T (p.Ala850Val) rs758199486
NM_000092.4(COL4A4):c.2586T>C (p.Pro862=) rs761238651
NM_000092.4(COL4A4):c.2628_2654dup (p.Arg877_Gly885dup) rs1553641597
NM_000092.4(COL4A4):c.2630G>A (p.Arg877Gln) rs150979437
NM_000092.4(COL4A4):c.2717-5A>T rs1800519
NM_000092.4(COL4A4):c.2756A>G (p.Glu919Gly) rs753208968
NM_000092.4(COL4A4):c.2840G>A (p.Arg947Gln) rs373540400
NM_000092.4(COL4A4):c.2985C>T (p.Pro995=) rs79261248
NM_000092.4(COL4A4):c.3022G>A (p.Gly1008Arg) rs371172166
NM_000092.4(COL4A4):c.3044G>A (p.Gly1015Glu) rs764323652
NM_000092.4(COL4A4):c.3089G>T (p.Gly1030Val) rs772699709
NM_000092.4(COL4A4):c.3103A>G (p.Thr1035Ala) rs1553638898
NM_000092.4(COL4A4):c.347G>A (p.Gly116Glu) rs1553696235
NM_000092.4(COL4A4):c.3577+14C>T rs370328730
NM_000092.4(COL4A4):c.3734G>T (p.Gly1245Val) rs1189502123
NM_000092.4(COL4A4):c.3770C>T (p.Pro1257Leu) rs755884665
NM_000092.4(COL4A4):c.3829C>T (p.Pro1277Ser) rs1037084154
NM_000092.4(COL4A4):c.3849T>A (p.Ser1283Arg) rs1553625644
NM_000092.4(COL4A4):c.3878A>G (p.Asp1293Gly) rs1559450506
NM_000092.4(COL4A4):c.3976C>A (p.Pro1326Thr) rs754359129
NM_000092.4(COL4A4):c.3983G>C (p.Gly1328Ala) rs1553624173
NM_000092.4(COL4A4):c.4003C>G (p.Pro1335Ala) rs1331634432
NM_000092.4(COL4A4):c.4021C>A (p.Pro1341Thr) rs539867676
NM_000092.4(COL4A4):c.4035G>C (p.Lys1345Asn) rs1369617472
NM_000092.4(COL4A4):c.4041A>T (p.Leu1347Phe) rs16823077
NM_000092.4(COL4A4):c.4049C>T (p.Pro1350Leu) rs771916354
NM_000092.4(COL4A4):c.4058G>A (p.Arg1353Lys) rs747708741
NM_000092.4(COL4A4):c.4070C>T (p.Thr1357Ile) rs1258564025
NM_000092.4(COL4A4):c.4081+14C>T rs1553623984
NM_000092.4(COL4A4):c.4090+14T>C rs147376687
NM_000092.4(COL4A4):c.410G>A (p.Gly137Asp) rs377511303
NM_000092.4(COL4A4):c.4217-15T>C rs200926310
NM_000092.4(COL4A4):c.4217G>C (p.Gly1406Ala) rs1364711591
NM_000092.4(COL4A4):c.428G>T (p.Gly143Val) rs1553695389
NM_000092.4(COL4A4):c.4298G>A (p.Gly1433Asp) rs1553614863
NM_000092.4(COL4A4):c.4349T>C (p.Ile1450Thr) rs72969704
NM_000092.4(COL4A4):c.436G>A (p.Gly146Ser) rs886055729
NM_000092.4(COL4A4):c.4394G>A (p.Gly1465Asp) rs533297350
NM_000092.4(COL4A4):c.4417C>A (p.Gln1473Lys) rs766771700
NM_000092.4(COL4A4):c.4421C>T (p.Thr1474Met) rs201615111
NM_000092.4(COL4A4):c.4423G>T (p.Asp1475Tyr) rs767457222
NM_000092.4(COL4A4):c.4440C>G (p.Cys1480Trp) rs774471575
NM_000092.4(COL4A4):c.4472A>G (p.Tyr1491Cys) rs1553613772
NM_000092.4(COL4A4):c.4640C>T (p.Ala1547Val) rs780916516
NM_000092.4(COL4A4):c.4673C>T (p.Ala1558Val) rs760044982
NM_000092.4(COL4A4):c.4678C>T (p.Arg1560Cys) rs200973262
NM_000092.4(COL4A4):c.4708G>A (p.Glu1570Lys) rs757328549
NM_000092.4(COL4A4):c.4715C>T (p.Pro1572Leu) rs121912863
NM_000092.4(COL4A4):c.4718C>T (p.Ala1573Val) rs762613810
NM_000092.4(COL4A4):c.4725G>A (p.Ala1575=) rs886055724
NM_000092.4(COL4A4):c.4730_4732del (p.Ala1577del) rs1559395809
NM_000092.4(COL4A4):c.475C>T (p.Pro159Ser) rs760873029
NM_000092.4(COL4A4):c.4760C>G (p.Pro1587Arg) rs190148408
NM_000092.4(COL4A4):c.4817G>A (p.Gly1606Glu) rs767901025
NM_000092.4(COL4A4):c.4862G>A (p.Ser1621Asn) rs886055723
NM_000092.4(COL4A4):c.4962G>A (p.Thr1654=) rs375911030
NM_000092.4(COL4A4):c.4982T>A (p.Phe1661Tyr) rs374119389
NM_000092.4(COL4A4):c.5015A>C (p.Glu1672Ala) rs1354826968
NM_000092.4(COL4A4):c.5029C>T (p.Arg1677Cys) rs759631057
NM_000092.4(COL4A4):c.5044C>T (p.Arg1682Trp) rs766550724
NM_000092.4(COL4A4):c.5048G>A (p.Cys1683Tyr) rs1386495377
NM_000092.4(COL4A4):c.5073G>C (p.Ter1691Tyr) rs769660371
NM_000092.4(COL4A4):c.541G>T (p.Ala181Ser) rs200707549
NM_000092.4(COL4A4):c.665C>T (p.Pro222Leu) rs773533313
NM_000092.4(COL4A4):c.673C>A (p.Pro225Thr) rs370606294
NM_000092.4(COL4A4):c.680G>A (p.Arg227His) rs368248078
NM_000092.4(COL4A4):c.735G>A (p.Pro245=) rs923865420
NM_000092.4(COL4A4):c.736-10T>G rs201175819
NM_000092.4(COL4A4):c.816+12A>T rs886055728
NM_000092.4(COL4A4):c.928C>T (p.Arg310Trp) rs200817090
NM_000092.5(COL4A4):c.*1026G>A
NM_000092.5(COL4A4):c.*1064G>C
NM_000092.5(COL4A4):c.*1171C>T
NM_000092.5(COL4A4):c.*1173T>C
NM_000092.5(COL4A4):c.*1190G>A
NM_000092.5(COL4A4):c.*1292A>T
NM_000092.5(COL4A4):c.*1397A>G
NM_000092.5(COL4A4):c.*1464A>T
NM_000092.5(COL4A4):c.*1930T>C
NM_000092.5(COL4A4):c.*1960C>A
NM_000092.5(COL4A4):c.*2021A>G
NM_000092.5(COL4A4):c.*222C>G
NM_000092.5(COL4A4):c.*2259G>C
NM_000092.5(COL4A4):c.*2422T>C
NM_000092.5(COL4A4):c.*244C>A
NM_000092.5(COL4A4):c.*2487C>A
NM_000092.5(COL4A4):c.*2647C>T
NM_000092.5(COL4A4):c.*2677T>G
NM_000092.5(COL4A4):c.*2732C>T
NM_000092.5(COL4A4):c.*2807T>G
NM_000092.5(COL4A4):c.*2849G>A
NM_000092.5(COL4A4):c.*2855C>T
NM_000092.5(COL4A4):c.*2962A>G
NM_000092.5(COL4A4):c.*3156A>G
NM_000092.5(COL4A4):c.*318T>G
NM_000092.5(COL4A4):c.*3354C>A
NM_000092.5(COL4A4):c.*3397T>C
NM_000092.5(COL4A4):c.*345T>A
NM_000092.5(COL4A4):c.*3791A>C
NM_000092.5(COL4A4):c.*4041A>G
NM_000092.5(COL4A4):c.*4194C>T
NM_000092.5(COL4A4):c.*4347C>T
NM_000092.5(COL4A4):c.*4363G>C
NM_000092.5(COL4A4):c.*4498T>C
NM_000092.5(COL4A4):c.*4545A>G
NM_000092.5(COL4A4):c.*4599T>C
NM_000092.5(COL4A4):c.*491A>G
NM_000092.5(COL4A4):c.*705T>C
NM_000092.5(COL4A4):c.*747T>C
NM_000092.5(COL4A4):c.*859A>C
NM_000092.5(COL4A4):c.*883C>G
NM_000092.5(COL4A4):c.*888G>A
NM_000092.5(COL4A4):c.*888G>T
NM_000092.5(COL4A4):c.*931C>T
NM_000092.5(COL4A4):c.-102+8G>T
NM_000092.5(COL4A4):c.1030-14A>G
NM_000092.5(COL4A4):c.1055C>T (p.Pro352Leu)
NM_000092.5(COL4A4):c.1369+15A>C
NM_000092.5(COL4A4):c.1395C>T (p.Pro465=) rs771419084
NM_000092.5(COL4A4):c.1459+5G>A
NM_000092.5(COL4A4):c.1522C>T (p.Pro508Ser)
NM_000092.5(COL4A4):c.1585C>T (p.Pro529Ser)
NM_000092.5(COL4A4):c.15C>T (p.His5=)
NM_000092.5(COL4A4):c.1630C>T (p.His544Tyr) rs745815071
NM_000092.5(COL4A4):c.1664C>T (p.Ala555Val)
NM_000092.5(COL4A4):c.1668G>T (p.Lys556Asn) rs764279454
NM_000092.5(COL4A4):c.1719T>C (p.Pro573=) rs533957132
NM_000092.5(COL4A4):c.1782A>G (p.Glu594=) rs370489388
NM_000092.5(COL4A4):c.1792C>T (p.Pro598Ser) rs1411689737
NM_000092.5(COL4A4):c.1819G>A (p.Ala607Thr) rs75539253
NM_000092.5(COL4A4):c.1914A>G (p.Pro638=)
NM_000092.5(COL4A4):c.1988-3C>T
NM_000092.5(COL4A4):c.2007C>T (p.Asn669=) rs754769010
NM_000092.5(COL4A4):c.2144C>T (p.Ala715Val) rs76636743
NM_000092.5(COL4A4):c.2161C>T (p.Pro721Ser)
NM_000092.5(COL4A4):c.2164+8A>T rs745682054
NM_000092.5(COL4A4):c.2241C>T (p.Pro747=) rs374510402
NM_000092.5(COL4A4):c.228T>G (p.Ile76Met)
NM_000092.5(COL4A4):c.232C>T (p.Pro78Ser)
NM_000092.5(COL4A4):c.2383+2_2383+5dup rs1553643488
NM_000092.5(COL4A4):c.2383+7G>A rs182406906
NM_000092.5(COL4A4):c.2392G>A (p.Gly798Ser)
NM_000092.5(COL4A4):c.2570C>T (p.Pro857Leu)
NM_000092.5(COL4A4):c.2860+13C>T
NM_000092.5(COL4A4):c.2969-10A>G rs1576130915
NM_000092.5(COL4A4):c.2996G>A (p.Gly999Glu) rs13027659
NM_000092.5(COL4A4):c.3108T>C (p.Gly1036=) rs201962241
NM_000092.5(COL4A4):c.3150+14G>T
NM_000092.5(COL4A4):c.3374C>T (p.Ser1125Phe)
NM_000092.5(COL4A4):c.3513C>T (p.Ser1171=)
NM_000092.5(COL4A4):c.354A>G (p.Pro118=)
NM_000092.5(COL4A4):c.3581T>C (p.Leu1194Ser)
NM_000092.5(COL4A4):c.3584ATG[1] (p.Asp1196del) rs780991255
NM_000092.5(COL4A4):c.3590T>C (p.Val1197Ala) rs946572297
NM_000092.5(COL4A4):c.3622C>G (p.Leu1208Val)
NM_000092.5(COL4A4):c.3654A>G (p.Pro1218=) rs369708146
NM_000092.5(COL4A4):c.3696A>G (p.Pro1232=)
NM_000092.5(COL4A4):c.3706+13A>G
NM_000092.5(COL4A4):c.3736G>A (p.Ala1246Thr)
NM_000092.5(COL4A4):c.3974-14T>C
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813
NM_000092.5(COL4A4):c.3989C>T (p.Pro1330Leu) rs201578201
NM_000092.5(COL4A4):c.3995C>T (p.Pro1332Leu) rs200860702
NM_000092.5(COL4A4):c.4081+9C>G
NM_000092.5(COL4A4):c.4095A>G (p.Glu1365=)
NM_000092.5(COL4A4):c.4126C>T (p.Pro1376Ser) rs780131074
NM_000092.5(COL4A4):c.4130G>A (p.Arg1377Gln)
NM_000092.5(COL4A4):c.4152G>A (p.Ala1384=) rs75398993
NM_000092.5(COL4A4):c.4198A>G (p.Arg1400Gly)
NM_000092.5(COL4A4):c.4216+11C>T
NM_000092.5(COL4A4):c.4247G>A (p.Arg1416Lys)
NM_000092.5(COL4A4):c.4291C>T (p.Arg1431Cys)
NM_000092.5(COL4A4):c.4333+3A>G rs1455105815
NM_000092.5(COL4A4):c.4413C>G (p.His1471Gln) rs1478610555
NM_000092.5(COL4A4):c.4513C>G (p.Gln1505Glu) rs756535060
NM_000092.5(COL4A4):c.4522+4T>G
NM_000092.5(COL4A4):c.4562C>G (p.Pro1521Arg) rs1222616093
NM_000092.5(COL4A4):c.4594C>A (p.His1532Asn)
NM_000092.5(COL4A4):c.4660C>T (p.Leu1554Phe)
NM_000092.5(COL4A4):c.4779G>A (p.Arg1593=) rs751561029
NM_000092.5(COL4A4):c.477AGG[3] (p.Gly161dup) rs1553695272
NM_000092.5(COL4A4):c.4782C>T (p.Ser1594=) rs200799557
NM_000092.5(COL4A4):c.4809+9C>T rs765888822
NM_000092.5(COL4A4):c.4829A>G (p.Gln1610Arg)
NM_000092.5(COL4A4):c.4830AGG[2] (p.Gly1613del) rs768416358
NM_000092.5(COL4A4):c.4924C>T (p.His1642Tyr)
NM_000092.5(COL4A4):c.4945A>G (p.Ser1649Gly)
NM_000092.5(COL4A4):c.4947C>T (p.Ser1649=) rs918428666
NM_000092.5(COL4A4):c.507G>C (p.Lys169Asn) rs545808060
NM_000092.5(COL4A4):c.592C>T (p.Pro198Ser)
NM_000092.5(COL4A4):c.620C>T (p.Ala207Val)
NM_000092.5(COL4A4):c.645G>A (p.Glu215=)
NM_000092.5(COL4A4):c.661C>T (p.Pro221Ser)
NM_000092.5(COL4A4):c.71+10C>T rs374140251
NM_000092.5(COL4A4):c.723A>C (p.Gln241His) rs201673987
NM_000092.5(COL4A4):c.766C>T (p.Pro256Ser)
NM_000092.5(COL4A4):c.771C>T (p.Thr257=) rs372387985
NM_000092.5(COL4A4):c.778G>A (p.Val260Ile)
NM_000092.5(COL4A4):c.817-6T>G
NM_000092.5(COL4A4):c.843T>C (p.Val281=)
NM_000092.5(COL4A4):c.846A>C (p.Gly282=)
NM_000092.5(COL4A4):c.847C>A (p.Leu283Met)
NM_000092.5(COL4A4):c.865C>T (p.Arg289Cys)
NM_000092.5(COL4A4):c.88C>T (p.Leu30Phe)
NM_000092.5(COL4A4):c.8C>T (p.Ser3Phe) rs201403066
NM_000092.5(COL4A4):c.931-18dup rs746509796

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