ClinVar Miner

List of variants in gene COL4A4 reported as likely pathogenic for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 118
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HGVS dbSNP
NM_000092.4(COL4A4):c.1029+2T>C rs1553682895
NM_000092.4(COL4A4):c.1030-2A>C rs1553681714
NM_000092.4(COL4A4):c.1033_1050del (p.Asp345_Gly350del) rs990679247
NM_000092.4(COL4A4):c.1118G>A (p.Gly373Glu) rs755649235
NM_000092.4(COL4A4):c.114+1G>C rs1553712110
NM_000092.4(COL4A4):c.1327_1344del (p.Pro444_Leu449del) rs1203564054
NM_000092.4(COL4A4):c.1369+1G>A rs1553676230
NM_000092.4(COL4A4):c.1405G>T (p.Gly469Ter) rs926605269
NM_000092.4(COL4A4):c.1424G>T (p.Gly475Val) rs1559594442
NM_000092.4(COL4A4):c.1579G>T (p.Gly527Cys) rs779930511
NM_000092.4(COL4A4):c.1696+1G>A rs954701825
NM_000092.4(COL4A4):c.1696+1G>T rs954701825
NM_000092.4(COL4A4):c.1715G>C (p.Gly572Ala) rs1446915781
NM_000092.4(COL4A4):c.1828G>A (p.Gly610Ser) rs1559563525
NM_000092.4(COL4A4):c.1907G>A (p.Gly636Asp) rs1559563141
NM_000092.4(COL4A4):c.1935_1952del (p.Pro647_Val652del) rs1553658892
NM_000092.4(COL4A4):c.2084G>A (p.Gly695Asp) rs1553644402
NM_000092.4(COL4A4):c.2242G>A (p.Gly748Ser) rs762139460
NM_000092.4(COL4A4):c.2279dup (p.Asp761fs) rs1553643669
NM_000092.4(COL4A4):c.2320G>C rs569681869
NM_000092.4(COL4A4):c.2374G>A (p.Gly792Arg) rs768003309
NM_000092.4(COL4A4):c.2510G>C (p.Gly837Ala) rs201648982
NM_000092.4(COL4A4):c.2546-1G>C rs1553641728
NM_000092.4(COL4A4):c.2590G>A (p.Gly864Arg) rs937550597
NM_000092.4(COL4A4):c.2662G>A (p.Gly888Arg) rs1363277825
NM_000092.4(COL4A4):c.2690G>A (p.Gly897Glu) rs121912860
NM_000092.4(COL4A4):c.2878G>A (p.Gly960Arg) rs769783985
NM_000092.4(COL4A4):c.3044G>A (p.Gly1015Glu) rs764323652
NM_000092.4(COL4A4):c.3089G>A (p.Gly1030Asp) rs772699709
NM_000092.4(COL4A4):c.3151-2A>G rs1369097739
NM_000092.4(COL4A4):c.328-1G>A rs754669149
NM_000092.4(COL4A4):c.3307G>A (p.Gly1103Arg) rs749299357
NM_000092.4(COL4A4):c.3638G>T (p.Gly1213Val) rs1559455617
NM_000092.4(COL4A4):c.372+2T>G rs1553696207
NM_000092.4(COL4A4):c.3861delinsCTC (p.Arg1288fs) rs1575895541
NM_000092.4(COL4A4):c.3875G>A (p.Gly1292Asp) rs971779449
NM_000092.4(COL4A4):c.3967C>T (p.Gln1323Ter) rs1489351299
NM_000092.4(COL4A4):c.4002_4005dup (p.His1336fs) rs1553624127
NM_000092.4(COL4A4):c.4063G>A (p.Gly1355Arg) rs1553624029
NM_000092.4(COL4A4):c.4090G>T (p.Gly1364Cys) rs1553622675
NM_000092.4(COL4A4):c.4333+2T>C rs755927061
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.446G>T (p.Gly149Val) rs374815903
NM_000092.4(COL4A4):c.4599T>G (p.Tyr1533Ter) rs369922627
NM_000092.4(COL4A4):c.4623C>G (p.Tyr1541Ter) rs891854419
NM_000092.4(COL4A4):c.4679_4683del (p.Arg1560fs) rs1553612499
NM_000092.4(COL4A4):c.4708G>A (p.Glu1570Lys) rs757328549
NM_000092.4(COL4A4):c.4760del (p.Pro1587fs) rs1206142672
NM_000092.4(COL4A4):c.4809+1G>A rs1553612309
NM_000092.4(COL4A4):c.481G>C (p.Gly161Arg) rs755961411
NM_000092.4(COL4A4):c.4858G>A (p.Gly1620Ser) rs1271416659
NM_000092.4(COL4A4):c.4903C>T (p.Gln1635Ter) rs1553611947
NM_000092.4(COL4A4):c.4932delinsTT (p.Ala1645fs) rs1553611909
NM_000092.4(COL4A4):c.4948T>C (p.Phe1650Leu) rs1553611876
NM_000092.4(COL4A4):c.5044C>T (p.Arg1682Trp) rs766550724
NM_000092.4(COL4A4):c.559_562dup (p.Asp188Glyfs) rs1553690604
NM_000092.4(COL4A4):c.596G>T (p.Gly199Val) rs1559646395
NM_000092.4(COL4A4):c.644_646del (p.Glu215_Pro216delinsAla) rs1553688712
NM_000092.4(COL4A4):c.657+1G>T rs1553688696
NM_000092.4(COL4A4):c.673_680del (p.Pro225fs) rs1553688330
NM_000092.4(COL4A4):c.693G>A (p.Lys231=) rs1559644463
NM_000092.4(COL4A4):c.71G>A (p.Trp24Ter) rs1201925443
NM_000092.4(COL4A4):c.81_86del (p.27_28IL[1]) rs771943519
NM_000092.4(COL4A4):c.871-1G>C rs375450996
NM_000092.4(COL4A4):c.903dup (p.Gly302fs) rs1559628183
NM_000092.4(COL4A4):c.941G>T (p.Gly314Val) rs1005389790
NM_000092.4(COL4A4):c.975+1G>A rs1553683192
NM_000092.4(COL4A4):c.975+1G>C rs1553683192
NM_000092.5(COL4A4):c.1027A>T (p.Lys343Ter)
NM_000092.5(COL4A4):c.1030-1G>C rs1559620132
NM_000092.5(COL4A4):c.1192_1195dup (p.Ala399fs)
NM_000092.5(COL4A4):c.1323_1340del rs773081522
NM_000092.5(COL4A4):c.1334G>C (p.Gly445Ala) rs548019779
NM_000092.5(COL4A4):c.1402C>T (p.Gln468Ter)
NM_000092.5(COL4A4):c.1424G>C (p.Gly475Ala)
NM_000092.5(COL4A4):c.1578del (p.Gly527fs)
NM_000092.5(COL4A4):c.1580del (p.Gly527fs)
NM_000092.5(COL4A4):c.1685C>A (p.Ser562Ter)
NM_000092.5(COL4A4):c.1952G>T (p.Gly651Val)
NM_000092.5(COL4A4):c.1973T>A (p.Leu658Ter)
NM_000092.5(COL4A4):c.2137G>T (p.Gly713Ter)
NM_000092.5(COL4A4):c.2160_2163dup (p.Gly722fs)
NM_000092.5(COL4A4):c.2402G>T (p.Gly801Val)
NM_000092.5(COL4A4):c.2599G>T (p.Gly867Ter)
NM_000092.5(COL4A4):c.2726G>A (p.Gly909Glu)
NM_000092.5(COL4A4):c.274G>T (p.Gly92Ter)
NM_000092.5(COL4A4):c.2752G>A (p.Gly918Arg)
NM_000092.5(COL4A4):c.2940dup (p.Gly981fs)
NM_000092.5(COL4A4):c.2967_2968del (p.Arg989_Gly990insTer) rs748473278
NM_000092.5(COL4A4):c.2992C>T (p.Gln998Ter)
NM_000092.5(COL4A4):c.3021C>G (p.Tyr1007Ter)
NM_000092.5(COL4A4):c.3064C>T (p.Gln1022Ter)
NM_000092.5(COL4A4):c.3101C>A (p.Ser1034Ter) rs1576129421
NM_000092.5(COL4A4):c.3220A>T (p.Lys1074Ter)
NM_000092.5(COL4A4):c.3259A>T (p.Lys1087Ter)
NM_000092.5(COL4A4):c.3347C>G (p.Ser1116Ter)
NM_000092.5(COL4A4):c.3457A>T (p.Arg1153Ter)
NM_000092.5(COL4A4):c.3488G>T (p.Gly1163Val)
NM_000092.5(COL4A4):c.3559G>A (p.Gly1187Arg)
NM_000092.5(COL4A4):c.3565A>T (p.Lys1189Ter)
NM_000092.5(COL4A4):c.3574_3577+8del rs1553627655
NM_000092.5(COL4A4):c.3619G>A (p.Gly1207Arg)
NM_000092.5(COL4A4):c.3688G>T (p.Gly1230Cys)
NM_000092.5(COL4A4):c.3933C>A (p.Tyr1311Ter)
NM_000092.5(COL4A4):c.4324G>T (p.Gly1442Ter)
NM_000092.5(COL4A4):c.4334-23A>G
NM_000092.5(COL4A4):c.4351G>A (p.Gly1451Arg)
NM_000092.5(COL4A4):c.491G>A (p.Gly164Asp)
NM_000092.5(COL4A4):c.594+1G>A rs1553690565
NM_000092.5(COL4A4):c.595G>T (p.Gly199Ter) rs750345987
NM_000092.5(COL4A4):c.710del (p.Gly237fs)
NM_000092.5(COL4A4):c.731A>C (p.Asp244Ala)
NM_000092.5(COL4A4):c.735+2T>C
NM_000092.5(COL4A4):c.755G>A (p.Gly252Asp)
NM_000092.5(COL4A4):c.836G>A (p.Gly279Glu)
NM_000092.5(COL4A4):c.948T>A (p.Tyr316Ter)
NM_000092.5(COL4A4):c.994G>T (p.Gly332Ter)

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