ClinVar Miner

List of variants in gene TMC1 reported as uncertain significance by Illumina Laboratory Services, Illumina

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Gene type:
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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_138691.3(TMC1):c.*183A>G rs71507808 0.02514
NM_138691.3(TMC1):c.*106G>C rs79830675 0.01140
NM_138691.3(TMC1):c.*28A>C rs151157872 0.00779
NM_138691.3(TMC1):c.-275G>A rs58824091 0.00773
NM_138691.3(TMC1):c.421C>T (p.Arg141Trp) rs11143384 0.00691
NM_138691.3(TMC1):c.924C>G (p.Asp308Glu) rs113342704 0.00073
NM_138691.3(TMC1):c.2144A>T (p.Tyr715Phe) rs41310067 0.00070
NM_138691.3(TMC1):c.*93C>T rs184207177 0.00061
NM_138691.3(TMC1):c.46G>A (p.Glu16Lys) rs140437301 0.00036
NM_138691.3(TMC1):c.-252C>T rs541857536 0.00021
NM_138691.3(TMC1):c.703G>T (p.Ala235Ser) rs200831684 0.00021
NM_138691.3(TMC1):c.-124T>C rs533837914 0.00020
NM_138691.3(TMC1):c.2070G>A (p.Ala690=) rs145757452 0.00017
NM_138691.3(TMC1):c.1608C>T (p.Tyr536=) rs552170649 0.00013
NM_138691.3(TMC1):c.795A>C (p.Thr265=) rs140398130 0.00013
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.2177C>T (p.Ala726Val) rs573874378 0.00011
NM_138691.3(TMC1):c.1609G>A (p.Val537Ile) rs150206751 0.00010
NM_138691.3(TMC1):c.760G>A (p.Val254Ile) rs111033497 0.00009
NM_138691.3(TMC1):c.2245G>T (p.Ala749Ser) rs139102393 0.00008
NM_138691.3(TMC1):c.1263A>G (p.Pro421=) rs139985214 0.00007
NM_138691.3(TMC1):c.-220C>T rs1057515621 0.00006
NM_138691.3(TMC1):c.1114G>A (p.Val372Met) rs367924428 0.00006
NM_138691.3(TMC1):c.339G>A (p.Met113Ile) rs397517840 0.00006
NM_138691.3(TMC1):c.*156T>C rs545955592 0.00005
NM_138691.3(TMC1):c.-481T>C rs757908231 0.00005
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys) rs372710475 0.00005
NM_138691.3(TMC1):c.1708G>A (p.Glu570Lys) rs369890353 0.00005
NM_138691.3(TMC1):c.*302A>G rs1055361532 0.00004
NM_138691.3(TMC1):c.*26G>C rs191962062 0.00003
NM_138691.3(TMC1):c.-385G>A rs939516320 0.00003
NM_138691.3(TMC1):c.910G>A (p.Gly304Arg) rs1008565149 0.00003
NM_138691.3(TMC1):c.-295A>T rs1391656977 0.00002
NM_138691.3(TMC1):c.-350C>T rs1022291966 0.00002
NM_138691.3(TMC1):c.1584A>G (p.Thr528=) rs762248733 0.00002
NM_138691.3(TMC1):c.2275C>T (p.Arg759Cys) rs142073640 0.00002
NM_138691.3(TMC1):c.2276G>A (p.Arg759His) rs765191961 0.00002
NM_138691.3(TMC1):c.*51G>A rs771430357 0.00001
NM_138691.3(TMC1):c.1334G>A (p.Arg445His) rs760532554 0.00001
NM_138691.3(TMC1):c.1594G>A (p.Val532Ile) rs759289124 0.00001
NM_138691.3(TMC1):c.237-5T>A rs1057515622 0.00001
NM_138691.3(TMC1):c.976G>A (p.Gly326Ser) rs1481117336 0.00001
NM_138691.3(TMC1):c.*10T>C rs1829120621
NM_138691.3(TMC1):c.-442T>G rs1823318883
NM_138691.3(TMC1):c.1417A>C (p.Lys473Gln) rs993650641
NM_138691.3(TMC1):c.2011A>G (p.Asn671Asp) rs1828964954
NM_138691.3(TMC1):c.2204A>C (p.Lys735Thr) rs1057515624
NM_138691.3(TMC1):c.2261-15_2261-14del rs777589679
NM_138691.3(TMC1):c.373A>C (p.Lys125Gln) rs377607548
NM_138691.3(TMC1):c.592del (p.Val198fs) rs1564530932

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