ClinVar Miner

List of variants in gene TMC6 reported as pathogenic by Invitae

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001127198.5(TMC6):c.744C>A (p.Tyr248Ter) rs121908329 0.00003
NM_001127198.5(TMC6):c.1177C>T (p.Gln393Ter) rs776505795 0.00001
NM_001127198.5(TMC6):c.190C>T (p.Gln64Ter) rs1296234074 0.00001
NM_001127198.5(TMC6):c.280C>T (p.Arg94Ter) rs121908327 0.00001
NC_000017.11:g.78121677_78121714del
NM_001127198.5(TMC6):c.1053_1056del (p.Phe351fs)
NM_001127198.5(TMC6):c.1146dup (p.Val383fs) rs1567995497
NM_001127198.5(TMC6):c.115C>T (p.Gln39Ter)
NM_001127198.5(TMC6):c.1162del (p.Asp388fs)
NM_001127198.5(TMC6):c.1325dup (p.Thr444fs) rs1555655146
NM_001127198.5(TMC6):c.1354del (p.Val452fs)
NM_001127198.5(TMC6):c.1698del (p.Phe566fs)
NM_001127198.5(TMC6):c.1942_1943del (p.Met648fs) rs1458008918
NM_001127198.5(TMC6):c.2033C>A (p.Ser678Ter) rs749657465
NM_001127198.5(TMC6):c.2211C>A (p.Tyr737Ter) rs758514260
NM_001127198.5(TMC6):c.2266C>T (p.Gln756Ter)
NM_001127198.5(TMC6):c.306C>A (p.Tyr102Ter) rs371786754
NM_001127198.5(TMC6):c.711_715del (p.Ile237fs) rs2145350631
NM_001127198.5(TMC6):c.748_1082+56del rs1567997496
NM_001127198.5(TMC6):c.846_855dup (p.Pro286fs)
NM_001127198.5(TMC6):c.892-2A>T rs769471844
NM_001127198.5(TMC6):c.967del (p.Leu323fs) rs1392702424

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