ClinVar Miner

List of variants in gene TMC1 reported by Laboratory of Prof. Karen Avraham, Tel Aviv University

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_138691.3(TMC1):c.1939T>C (p.Ser647Pro) rs138527651 0.00002
NM_138691.2(TMC1):c.[1165C>T];[1939T>C]
NM_138691.2(TMC1):c.[1210T>C];[1939T>C]
NM_138691.2(TMC1):c.[1810C>T];[1939T>C]
NM_138691.2(TMC1):c.[1810C>T];[674C>T]
NM_138691.3(TMC1):c.15dup (p.Val6fs) rs878853229
NM_138691.3(TMC1):c.229del (p.Arg77fs) rs878853230

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