ClinVar Miner

List of variants in gene TMC1 reported as pathogenic by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Total variants: 12
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NM_138691.2(TMC1):c.100C>T (p.Arg34Ter) rs121908073
NM_138691.2(TMC1):c.1165C>T rs151001642
NM_138691.2(TMC1):c.1236del (p.Met413fs) rs876657727
NM_138691.2(TMC1):c.1676G>A (p.Trp559Ter) rs876657728
NM_138691.2(TMC1):c.1677G>A (p.Trp559Ter) rs876657729
NM_138691.2(TMC1):c.1714G>A (p.Asp572Asn) rs121908072
NM_138691.2(TMC1):c.1763+3A>G rs370898981
NM_138691.2(TMC1):c.1939T>C rs138527651
NM_138691.2(TMC1):c.215_219dup (p.Arg74fs) rs730880359
NM_138691.2(TMC1):c.22del (p.Ile8fs) rs727504554
NM_138691.2(TMC1):c.236+1G>A rs775428246

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