ClinVar Miner

List of variants in gene TMC1 reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_138691.3(TMC1):c.924C>G (p.Asp308Glu) rs113342704 0.00073
NM_138691.3(TMC1):c.2070G>A (p.Ala690=) rs145757452 0.00017
NM_138691.3(TMC1):c.2177C>T (p.Ala726Val) rs573874378 0.00011
NM_138691.3(TMC1):c.1622T>C (p.Ile541Thr) rs201955337 0.00008
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys) rs372710475 0.00005
NM_138691.3(TMC1):c.956C>G (p.Thr319Ser) rs142629075 0.00004
NM_138691.3(TMC1):c.534A>T (p.Glu178Asp) rs886042321 0.00001
NM_138691.3(TMC1):c.603T>G (p.Val201=) rs372449375 0.00001
NM_138691.3(TMC1):c.830A>G (p.Tyr277Cys) rs774299359 0.00001
NM_138691.3(TMC1):c.265T>C (p.Leu89=) rs886043585
NM_138691.3(TMC1):c.65-10C>T rs576970134

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