ClinVar Miner

List of variants reported as likely pathogenic for Nonsyndromic genetic hearing loss by ClinGen Hearing Loss Variant Curation Expert Panel

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_004004.6(GJB2):c.110T>C (p.Val37Ala) rs141774369 0.00014
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00009
NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro) rs749747871 0.00006
NM_016239.4(MYO15A):c.9517+2T>C rs1322423998 0.00004
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437 0.00001
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro) rs111033361 0.00001
NM_004004.6(GJB2):c.563A>G (p.Lys188Arg) rs1131691709 0.00001
NM_004004.6(GJB2):c.583A>G (p.Met195Val) rs532203068 0.00001
NM_016239.4(MYO15A):c.996C>G (p.Tyr332Ter) rs759523751 0.00001
NM_194248.3(OTOF):c.5374C>T (p.Arg1792Cys) rs142111099 0.00001
NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys) rs782279338
NM_004004.6(GJB2):c.1A>T (p.Met1Leu) rs111033293
NM_004700.4(KCNQ4):c.825G>C (p.Trp275Cys) rs956666801
NM_004999.4(MYO6):c.2751dup (p.Gln918fs) rs551348450
NM_016239.4(MYO15A):c.1137del (p.Tyr380fs) rs769260536
NM_016239.4(MYO15A):c.6337A>T (p.Ile2113Phe) rs121908965
NM_194248.3(OTOF):c.5193-1G>A rs111033373

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