ClinVar Miner

List of variants reported as likely pathogenic for Nonsyndromic genetic hearing loss by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe) rs111033330 0.00013
NM_001195263.2(PDZD7):c.2211del (p.Gln737fs) rs1157689930 0.00004
NM_004004.6(GJB2):c.299A>T (p.His100Leu) rs1422767764 0.00002
NM_016239.4(MYO15A):c.6893G>A (p.Arg2298Gln) rs1001523088 0.00001
NM_138691.3(TMC1):c.1334G>A (p.Arg445His) rs760532554 0.00001
NM_001199799.2(ILDR1):c.377del (p.Asn126fs)
NM_001199799.2(ILDR1):c.912del (p.Asp305fs)
NM_001292063.2(OTOG):c.5506C>T (p.Gln1836Ter) rs2134091591
NM_001378609.3(OTOGL):c.4483_4484del (p.Gln1495fs)
NM_002906.4(RDX):c.1180C>T (p.Arg394Ter)
NM_004999.4(MYO6):c.78del (p.Asp27fs) rs1771411002
NM_005422.4(TECTA):c.12dup (p.Ser5fs)
NM_005422.4(TECTA):c.6062G>A (p.Arg2021His) rs121909062
NM_017433.5(MYO3A):c.192del (p.Glu65fs)
NM_017433.5(MYO3A):c.2421dup (p.Phe808fs)

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