List of variants in gene TMC1 reported as pathogenic by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_138691.3(TMC1):c.1763+3A>G	rs370898981	0.00056
NM_138691.3(TMC1):c.100C>T (p.Arg34Ter)	rs121908073	0.00006
NM_138691.3(TMC1):c.1165C>T (p.Arg389Ter)	rs151001642	0.00006
NM_138691.3(TMC1):c.1676G>A (p.Trp559Ter)	rs876657728	0.00004
NM_138691.3(TMC1):c.236+1G>A	rs775428246	0.00003
NM_138691.3(TMC1):c.1939T>C (p.Ser647Pro)	rs138527651	0.00002
NC_000009.12:g.(?_72648590)_(72648670_?)del
NM_138691.3(TMC1):c.1236del (p.Met413fs)	rs876657727
NM_138691.3(TMC1):c.1677G>A (p.Trp559Ter)	rs876657729
NM_138691.3(TMC1):c.1714G>A (p.Asp572Asn)	rs121908072
NM_138691.3(TMC1):c.215_219dup (p.Arg74fs)	rs730880359
NM_138691.3(TMC1):c.22del (p.Ile8fs)	rs727504554

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