ClinVar Miner

List of variants reported as pathogenic for auditory system disease by Victorian Clinical Genetics Services,Murdoch Childrens Research Institute

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP
NM_000091.4(COL4A3):c.1594G>T (p.Gly532Cys) rs779575469
NM_000091.4(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952
NM_000091.5(COL4A3):c.2162del (p.Gly721fs) rs1399954090
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848
NM_000441.2(SLC26A4):c.916dup (p.Val306fs) rs768245266
NM_000441.2(SLC26A4):c.919-2A>G rs111033313
NM_000503.6(EYA1):c.1259del (p.Leu420fs)
NM_001002295.2(GATA3):c.431dup (p.His145fs)
NM_001002295.2(GATA3):c.790T>A (p.Cys264Ser)
NM_001002295.2(GATA3):c.961T>A (p.Cys321Ser)
NM_001354604.2(MITF):c.961C>T (p.Arg321Ter) rs104893746
NM_001692.4(ATP6V1B1):c.183del (p.Gln61fs)
NM_001844.5(COL2A1):c.655G>A (p.Gly219Arg) rs1131691822
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) rs104894397
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) rs767178508
NM_004004.6(GJB2):c.550C>T (p.Arg184Trp) rs998045226
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396
NM_007123.5(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_016239.4(MYO15A):c.1137del (p.Tyr380fs) rs769260536
NM_016239.4(MYO15A):c.1185dup (p.Glu396fs) rs772536599
NM_017780.4(CHD7):c.604C>T (p.Gln202Ter) rs1554581277
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter) rs886040995
NM_033380.3(COL4A5):c.1690G>T (p.Gly564Cys) rs281874674
NM_033380.3(COL4A5):c.2333G>A (p.Gly778Asp)
NM_033380.3(COL4A5):c.3685G>A (p.Gly1229Ser) rs1569505771
NM_033380.3(COL4A5):c.4119_4126del (p.Gln1373fs)
NM_033380.3(COL4A5):c.4931G>A (p.Cys1644Tyr) rs104886302
NM_033380.3(COL4A5):c.4938C>G (p.Tyr1646Ter)
NM_033380.3(COL4A5):c.659T>A (p.Leu220Ter)
NM_206933.4(USH2A):c.10699del (p.Gln3566_Leu3567insTer)
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902

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