ClinVar Miner

List of variants in gene TMC1 reported as likely pathogenic

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Total variants: 9
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HGVS dbSNP
NM_138691.2(TMC1):c.1114G>A (p.Val372Met) rs367924428
NM_138691.2(TMC1):c.1141T>A (p.Tyr381Asn) rs749491943
NM_138691.2(TMC1):c.1333C>T (p.Arg445Cys) rs372710475
NM_138691.2(TMC1):c.1714G>A (p.Asp572Asn) rs121908072
NM_138691.2(TMC1):c.1763+3A>G rs370898981
NM_138691.2(TMC1):c.236+1G>A rs775428246
NM_138691.2(TMC1):c.582G>A (p.Trp194Ter) rs1172357346
NM_138691.2(TMC1):c.674C>T rs370088722
NM_138691.2(TMC1):c.741+1G>A

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