ClinVar Miner

List of variants in gene TMC1 reported as pathogenic for Deafness, autosomal recessive 7

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Total variants: 19
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NM_138691.2(TMC1):c.100C>T (p.Arg34Ter) rs121908073
NM_138691.2(TMC1):c.1143C>G (p.Tyr381Ter)
NM_138691.2(TMC1):c.1220dup (p.Asn407fs) rs1564555185
NM_138691.2(TMC1):c.1259G>A (p.Cys420Tyr) rs1564556995
NM_138691.2(TMC1):c.1532C>T (p.Pro511Leu) rs727503483
NM_138691.2(TMC1):c.1543T>C (p.Cys515Arg) rs121908076
NM_138691.2(TMC1):c.15dup (p.Val6fs) rs878853229
NM_138691.2(TMC1):c.1763+3A>G rs370898981
NM_138691.2(TMC1):c.1939T>C rs138527651
NM_138691.2(TMC1):c.1960A>G (p.Met654Val) rs121908074
NM_138691.2(TMC1):c.2218G>T (p.Glu740Ter) rs1564583413
NM_138691.2(TMC1):c.229del (p.Arg77fs) rs878853230
NM_138691.2(TMC1):c.236+1G>A rs775428246
NM_138691.2(TMC1):c.885-2A>C rs1564554148

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