ClinVar Miner

List of variants in gene TMC1 reported as pathogenic by OMIM

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Gene type:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_138691.3(TMC1):c.100C>T (p.Arg34Ter) rs121908073 0.00006
NM_138691.3(TMC1):c.1960A>G (p.Met654Val) rs121908074 0.00002
NM_138691.3(TMC1):c.1253T>A (p.Met418Lys) rs786201027
NM_138691.3(TMC1):c.1543T>C (p.Cys515Arg) rs121908076
NM_138691.3(TMC1):c.16+1G>T rs1169090943
NM_138691.3(TMC1):c.1627G>A (p.Asp543Asn)
NM_138691.3(TMC1):c.1714G>A (p.Asp572Asn) rs121908072
NM_138691.3(TMC1):c.1714G>C (p.Asp572His) rs121908072

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