ClinVar Miner

List of variants in gene TMC1 reported as uncertain significance by GeneDx

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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_138691.3(TMC1):c.2144A>T (p.Tyr715Phe) rs41310067 0.00070
NM_138691.3(TMC1):c.141T>A (p.Asp47Glu) rs140388347 0.00061
NM_138691.3(TMC1):c.46G>A (p.Glu16Lys) rs140437301 0.00036
NM_138691.3(TMC1):c.703G>T (p.Ala235Ser) rs200831684 0.00021
NM_138691.3(TMC1):c.448G>A (p.Ala150Thr) rs534560340 0.00016
NM_138691.3(TMC1):c.473G>A (p.Arg158His) rs148340276 0.00012
NM_138691.3(TMC1):c.145A>C (p.Ile49Leu) rs149947445 0.00011
NM_138691.3(TMC1):c.1609G>A (p.Val537Ile) rs150206751 0.00010
NM_138691.3(TMC1):c.2230C>T (p.Arg744Ter) rs150738413 0.00010
NM_138691.3(TMC1):c.1846G>A (p.Val616Ile) rs376422017 0.00009
NM_138691.3(TMC1):c.968A>G (p.Tyr323Cys) rs746724027 0.00008
NM_138691.3(TMC1):c.1301A>C (p.His434Pro) rs375264737 0.00006
NM_138691.3(TMC1):c.1966G>A (p.Val656Met) rs144147585 0.00006
NM_138691.3(TMC1):c.339G>A (p.Met113Ile) rs397517840 0.00006
NM_138691.3(TMC1):c.472C>T (p.Arg158Cys) rs200841002 0.00006
NM_138691.3(TMC1):c.928A>G (p.Thr310Ala) rs144501871 0.00006
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys) rs372710475 0.00005
NM_138691.3(TMC1):c.59G>C (p.Ser20Thr) rs189479995 0.00005
NM_138691.3(TMC1):c.885-11T>C rs768694342 0.00005
NM_138691.3(TMC1):c.2027T>A (p.Val676Asp) rs764992976 0.00004
NM_138691.3(TMC1):c.1387G>A (p.Asp463Asn) rs758352261 0.00003
NM_138691.3(TMC1):c.791G>A (p.Arg264Gln) rs147147941 0.00003
NM_138691.3(TMC1):c.936T>G (p.Asn312Lys) rs148443938 0.00003
NM_138691.3(TMC1):c.1070A>G (p.Asn357Ser) rs397517834 0.00002
NM_138691.3(TMC1):c.1312G>A (p.Ala438Thr) rs745495139 0.00002
NM_138691.3(TMC1):c.697G>A (p.Glu233Lys) rs373537563 0.00002
NM_138691.3(TMC1):c.821C>T (p.Pro274Leu) rs755694066 0.00002
NM_138691.3(TMC1):c.1010C>A (p.Ser337Tyr) rs376305043 0.00001
NM_138691.3(TMC1):c.1029+3A>G rs1588083737 0.00001
NM_138691.3(TMC1):c.1111T>C (p.Phe371Leu) rs758739636 0.00001
NM_138691.3(TMC1):c.1189G>A (p.Asp397Asn) rs185702148 0.00001
NM_138691.3(TMC1):c.1233G>A (p.Met411Ile) rs184603559 0.00001
NM_138691.3(TMC1):c.1471A>T (p.Asn491Tyr) rs887241990 0.00001
NM_138691.3(TMC1):c.656T>C (p.Leu219Ser) rs749608265 0.00001
NM_138691.3(TMC1):c.1312G>T (p.Ala438Ser) rs745495139
NM_138691.3(TMC1):c.1343C>G (p.Ala448Gly)
NM_138691.3(TMC1):c.1358A>G (p.Asn453Ser)
NM_138691.3(TMC1):c.1449A>C (p.Glu483Asp) rs1554728060
NM_138691.3(TMC1):c.1537G>A (p.Gly513Arg) rs2118194289
NM_138691.3(TMC1):c.1588T>C (p.Ser530Pro) rs750746559
NM_138691.3(TMC1):c.1663T>G (p.Tyr555Asp)
NM_138691.3(TMC1):c.1688A>G (p.Tyr563Cys) rs2118239557
NM_138691.3(TMC1):c.1769G>T (p.Gly590Val) rs1397306960
NM_138691.3(TMC1):c.1799T>G (p.Ile600Ser) rs2118298452
NM_138691.3(TMC1):c.1849A>T (p.Met617Leu)
NM_138691.3(TMC1):c.1876G>A (p.Val626Ile)
NM_138691.3(TMC1):c.2002A>C (p.Ser668Arg)
NM_138691.3(TMC1):c.2219del (p.Glu740fs)
NM_138691.3(TMC1):c.2231G>A (p.Arg744Gln)
NM_138691.3(TMC1):c.236C>A (p.Ala79Glu) rs140482278
NM_138691.3(TMC1):c.257A>G (p.Glu86Gly)
NM_138691.3(TMC1):c.373A>C (p.Lys125Gln) rs377607548
NM_138691.3(TMC1):c.379G>A (p.Val127Met)
NM_138691.3(TMC1):c.464A>C (p.Lys155Thr)
NM_138691.3(TMC1):c.587A>G (p.Tyr196Cys)
NM_138691.3(TMC1):c.676A>G (p.Arg226Gly)
NM_138691.3(TMC1):c.688C>T (p.Pro230Ser) rs2118067302
NM_138691.3(TMC1):c.853A>C (p.Ile285Leu) rs2118127067
NM_138691.3(TMC1):c.916G>A (p.Gly306Arg) rs2118177925

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