ClinVar Miner

List of variants in gene TMC1 reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 14
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HGVS dbSNP
NM_138691.2(TMC1):c.1114G>A (p.Val372Met) rs367924428
NM_138691.2(TMC1):c.1165C>T rs151001642
NM_138691.2(TMC1):c.1333C>T (p.Arg445Cys) rs372710475
NM_138691.2(TMC1):c.1622T>C (p.Ile541Thr) rs201955337
NM_138691.2(TMC1):c.2070G>A (p.Ala690=) rs145757452
NM_138691.2(TMC1):c.2177C>T (p.Ala726Val)
NM_138691.2(TMC1):c.238_240GAA[3] (p.Glu83del) rs376040866
NM_138691.2(TMC1):c.265T>C (p.Leu89=) rs886043585
NM_138691.2(TMC1):c.534A>T (p.Glu178Asp) rs886042321
NM_138691.2(TMC1):c.603T>G (p.Val201=) rs372449375
NM_138691.2(TMC1):c.65-10C>T
NM_138691.2(TMC1):c.830A>G (p.Tyr277Cys)
NM_138691.2(TMC1):c.924C>G (p.Asp308Glu) rs113342704
NM_138691.2(TMC1):c.956C>G (p.Thr319Ser) rs142629075

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