ClinVar Miner

List of variants in gene TMC1 reported by OMIM

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Total variants: 7
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HGVS dbSNP
NM_138691.2(TMC1):c.100C>T (p.Arg34Ter) rs121908073
NM_138691.2(TMC1):c.1253T>A (p.Met418Lys) rs786201027
NM_138691.2(TMC1):c.1543T>C (p.Cys515Arg) rs121908076
NM_138691.2(TMC1):c.16+1G>T
NM_138691.2(TMC1):c.1714G>A (p.Asp572Asn) rs121908072
NM_138691.2(TMC1):c.1714G>C (p.Asp572His) rs121908072
NM_138691.2(TMC1):c.1960A>G (p.Met654Val) rs121908074

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