ClinVar Miner

List of variants in gene TMC1 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_138691.3(TMC1):c.*106G>C rs79830675 0.01140
NM_138691.3(TMC1):c.421C>T (p.Arg141Trp) rs11143384 0.00691
NM_138691.3(TMC1):c.1708G>A (p.Glu570Lys) rs369890353 0.00005
NM_138691.3(TMC1):c.1141T>A (p.Tyr381Asn) rs749491943 0.00003
NM_138691.3(TMC1):c.1506C>G (p.Pro502=) rs2118194195
NM_138691.3(TMC1):c.1599G>A (p.Leu533=)
NM_138691.3(TMC1):c.1941C>T (p.Ser647=) rs2118299085
NM_138691.3(TMC1):c.2050G>A (p.Asp684Asn) rs563322370
NM_138691.3(TMC1):c.2130-4T>C
NM_138691.3(TMC1):c.238GAA[3] (p.Glu83del) rs376040866

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