ClinVar Miner

List of variants in gene TMC1 reported as uncertain significance

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Total variants: 212
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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.141T>A (p.Asp47Glu) rs140388347 0.00061
NM_138691.3(TMC1):c.46G>A (p.Glu16Lys) rs140437301 0.00036
NM_138691.3(TMC1):c.1705A>G (p.Thr569Ala) rs148971770 0.00029
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.448G>A (p.Ala150Thr) rs534560340 0.00016
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.1030-3C>T rs370872111 0.00010
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.2254C>T (p.Arg752Ter) rs149506642 0.00010
NM_138691.3(TMC1):c.1846G>A (p.Val616Ile) rs376422017 0.00009
NM_138691.3(TMC1):c.760G>A (p.Val254Ile) rs111033497 0.00009
NM_138691.3(TMC1):c.1622T>C (p.Ile541Thr) rs201955337 0.00008
NM_138691.3(TMC1):c.2245G>T (p.Ala749Ser) rs139102393 0.00008
NM_138691.3(TMC1):c.968A>G (p.Tyr323Cys) rs746724027 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.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.*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.59G>C (p.Ser20Thr) rs189479995 0.00005
NM_138691.3(TMC1):c.885-11T>C rs768694342 0.00005
NM_138691.3(TMC1):c.*302A>G rs1055361532 0.00004
NM_138691.3(TMC1):c.1567-14T>G rs727503485 0.00004
NM_138691.3(TMC1):c.2027T>A (p.Val676Asp) rs764992976 0.00004
NM_138691.3(TMC1):c.956C>G (p.Thr319Ser) rs142629075 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.1018A>G (p.Met340Val) rs771281791 0.00003
NM_138691.3(TMC1):c.1141T>A (p.Tyr381Asn) rs749491943 0.00003
NM_138691.3(TMC1):c.1387G>A (p.Asp463Asn) rs758352261 0.00003
NM_138691.3(TMC1):c.2192A>G (p.Lys731Arg) rs775993082 0.00003
NM_138691.3(TMC1):c.627C>T (p.Leu209=) rs748580616 0.00003
NM_138691.3(TMC1):c.791G>A (p.Arg264Gln) rs147147941 0.00003
NM_138691.3(TMC1):c.910G>A (p.Gly304Arg) rs1008565149 0.00003
NM_138691.3(TMC1):c.936T>G (p.Asn312Lys) rs148443938 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.1070A>G (p.Asn357Ser) rs397517834 0.00002
NM_138691.3(TMC1):c.1312G>A (p.Ala438Thr) rs745495139 0.00002
NM_138691.3(TMC1):c.1404+4A>G rs727503484 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.624C>A (p.Ser208Arg) rs781747541 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.*51G>A rs771430357 0.00001
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.1334G>A (p.Arg445His) rs760532554 0.00001
NM_138691.3(TMC1):c.1471A>T (p.Asn491Tyr) rs887241990 0.00001
NM_138691.3(TMC1):c.1594G>A (p.Val532Ile) rs759289124 0.00001
NM_138691.3(TMC1):c.1660A>T (p.Asn554Tyr) rs776624164 0.00001
NM_138691.3(TMC1):c.1735G>A (p.Ala579Thr) rs1250257217 0.00001
NM_138691.3(TMC1):c.2044G>C (p.Glu682Gln) rs199819595 0.00001
NM_138691.3(TMC1):c.2068G>A (p.Ala690Thr) rs397517838 0.00001
NM_138691.3(TMC1):c.237-5T>A rs1057515622 0.00001
NM_138691.3(TMC1):c.534A>T (p.Glu178Asp) rs886042321 0.00001
NM_138691.3(TMC1):c.543T>G (p.Phe181Leu) rs989635871 0.00001
NM_138691.3(TMC1):c.596A>G (p.Asn199Ser) rs756960425 0.00001
NM_138691.3(TMC1):c.603T>G (p.Val201=) rs372449375 0.00001
NM_138691.3(TMC1):c.637C>T (p.Pro213Ser) rs745569653 0.00001
NM_138691.3(TMC1):c.64A>G (p.Ser22Gly) rs144387828 0.00001
NM_138691.3(TMC1):c.656T>C (p.Leu219Ser) rs749608265 0.00001
NM_138691.3(TMC1):c.707C>T (p.Ser236Leu) rs751873680 0.00001
NM_138691.3(TMC1):c.830A>G (p.Tyr277Cys) rs774299359 0.00001
NM_138691.3(TMC1):c.884+2dup rs876658020 0.00001
NM_138691.3(TMC1):c.976G>A (p.Gly326Ser) rs1481117336 0.00001
GRCh37/hg19 9q21.13(chr9:75028573-75163613)x1
GRCh37/hg19 9q21.13(chr9:75425828-75464591)x1
NM_138691.3(TMC1):c.*10T>C rs1829120621
NM_138691.3(TMC1):c.-442T>G rs1823318883
NM_138691.3(TMC1):c.1015A>C (p.Thr339Pro)
NM_138691.3(TMC1):c.1022A>C (p.Asn341Thr) rs727504568
NM_138691.3(TMC1):c.1100T>G (p.Leu367Arg)
NM_138691.3(TMC1):c.1113C>A (p.Phe371Leu) rs762332645
NM_138691.3(TMC1):c.1198A>T (p.Thr400Ser)
NM_138691.3(TMC1):c.1201C>A (p.Leu401Ile) rs1271495869
NM_138691.3(TMC1):c.1224+5G>A rs397517835
NM_138691.3(TMC1):c.1252A>G (p.Met418Val)
NM_138691.3(TMC1):c.1252A>T (p.Met418Leu) rs775453038
NM_138691.3(TMC1):c.1256T>C (p.Phe419Ser)
NM_138691.3(TMC1):c.1265C>A (p.Thr422Lys) rs868082421
NM_138691.3(TMC1):c.1295A>C (p.Asp432Ala)
NM_138691.3(TMC1):c.1309A>G (p.Ile437Val)
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.1369T>C (p.Phe457Leu) rs397517836
NM_138691.3(TMC1):c.1375C>T (p.Leu459Phe)
NM_138691.3(TMC1):c.1389T>A (p.Asp463Glu)
NM_138691.3(TMC1):c.1417A>C (p.Lys473Gln) rs993650641
NM_138691.3(TMC1):c.1444T>C (p.Trp482Arg)
NM_138691.3(TMC1):c.1449A>C (p.Glu483Asp) rs1554728060
NM_138691.3(TMC1):c.1487A>G (p.Glu496Gly) rs2118194034
NM_138691.3(TMC1):c.1532C>A (p.Pro511His) rs727503483
NM_138691.3(TMC1):c.1535G>A (p.Arg512Gln)
NM_138691.3(TMC1):c.1537G>A (p.Gly513Arg) rs2118194289
NM_138691.3(TMC1):c.1551A>C (p.Glu517Asp) rs2118194338
NM_138691.3(TMC1):c.1588T>C (p.Ser530Pro) rs750746559
NM_138691.3(TMC1):c.1607A>G (p.Tyr536Cys)
NM_138691.3(TMC1):c.1663T>G (p.Tyr555Asp)
NM_138691.3(TMC1):c.1670G>C (p.Trp557Ser)
NM_138691.3(TMC1):c.1688A>G (p.Tyr563Cys) rs2118239557
NM_138691.3(TMC1):c.1696C>T (p.Pro566Ser)
NM_138691.3(TMC1):c.1751A>G (p.Gln584Arg)
NM_138691.3(TMC1):c.1762T>C (p.Trp588Arg)
NM_138691.3(TMC1):c.1765A>G (p.Met589Val) rs2118298286
NM_138691.3(TMC1):c.1769G>T (p.Gly590Val) rs1397306960
NM_138691.3(TMC1):c.1795G>A (p.Gly599Ser)
NM_138691.3(TMC1):c.1796G>A (p.Gly599Asp) rs727503486
NM_138691.3(TMC1):c.1798A>G (p.Ile600Val) rs202144745
NM_138691.3(TMC1):c.1799T>G (p.Ile600Ser) rs2118298452
NM_138691.3(TMC1):c.1805T>G (p.Ile602Ser)
NM_138691.3(TMC1):c.1849A>T (p.Met617Leu)
NM_138691.3(TMC1):c.1874G>C (p.Arg625Thr) rs762417969
NM_138691.3(TMC1):c.1876G>A (p.Val626Ile)
NM_138691.3(TMC1):c.1902C>G (p.Asn634Lys) rs767285617
NM_138691.3(TMC1):c.1946T>C (p.Met649Thr)
NM_138691.3(TMC1):c.1951G>T (p.Val651Phe)
NM_138691.3(TMC1):c.1975C>A (p.Pro659Thr) rs2118299337
NM_138691.3(TMC1):c.1988A>G (p.Asp663Gly) rs397517837
NM_138691.3(TMC1):c.1992T>G (p.Cys664Trp) rs727503487
NM_138691.3(TMC1):c.2002A>C (p.Ser668Arg)
NM_138691.3(TMC1):c.2004T>G (p.Ser668Arg) rs1181901214
NM_138691.3(TMC1):c.2011A>G (p.Asn671Asp) rs1828964954
NM_138691.3(TMC1):c.2014A>G (p.Arg672Gly) rs1164767371
NM_138691.3(TMC1):c.2050G>A (p.Asp684Asn) rs563322370
NM_138691.3(TMC1):c.2130-4T>C
NM_138691.3(TMC1):c.2134G>T (p.Ala712Ser)
NM_138691.3(TMC1):c.2163G>C (p.Lys721Asn) rs1588105861
NM_138691.3(TMC1):c.2163G>T (p.Lys721Asn)
NM_138691.3(TMC1):c.2201T>C (p.Met734Thr)
NM_138691.3(TMC1):c.2204A>C (p.Lys735Thr) rs1057515624
NM_138691.3(TMC1):c.2219del (p.Glu740fs)
NM_138691.3(TMC1):c.2231G>A (p.Arg744Gln)
NM_138691.3(TMC1):c.2237A>G (p.Lys746Arg)
NM_138691.3(TMC1):c.2242A>G (p.Met748Val)
NM_138691.3(TMC1):c.2249C>A (p.Ala750Asp) rs1829026565
NM_138691.3(TMC1):c.2260+5G>A
NM_138691.3(TMC1):c.2261-15_2261-14del rs777589679
NM_138691.3(TMC1):c.2261-1G>A
NM_138691.3(TMC1):c.236C>A (p.Ala79Glu) rs140482278
NM_138691.3(TMC1):c.236C>T (p.Ala79Val)
NM_138691.3(TMC1):c.257A>G (p.Glu86Gly)
NM_138691.3(TMC1):c.265T>C (p.Leu89=) rs886043585
NM_138691.3(TMC1):c.331T>C (p.Trp111Arg)
NM_138691.3(TMC1):c.345G>C (p.Lys115Asn)
NM_138691.3(TMC1):c.35A>G (p.Glu12Gly) rs2132183942
NM_138691.3(TMC1):c.373A>C (p.Lys125Gln) rs377607548
NM_138691.3(TMC1):c.379G>A (p.Val127Met)
NM_138691.3(TMC1):c.382A>G (p.Ser128Gly)
NM_138691.3(TMC1):c.403G>A (p.Gly135Arg) rs397517841
NM_138691.3(TMC1):c.422G>A (p.Arg141Gln)
NM_138691.3(TMC1):c.451A>C (p.Lys151Gln)
NM_138691.3(TMC1):c.464A>C (p.Lys155Thr)
NM_138691.3(TMC1):c.505C>G (p.Pro169Ala) rs1827407033
NM_138691.3(TMC1):c.532G>A (p.Glu178Lys) rs1588060117
NM_138691.3(TMC1):c.537T>G (p.Ser179Arg)
NM_138691.3(TMC1):c.545G>T (p.Gly182Val) rs199560971
NM_138691.3(TMC1):c.557C>G (p.Ala186Gly) rs727504470
NM_138691.3(TMC1):c.586T>A (p.Tyr196Asn)
NM_138691.3(TMC1):c.587A>G (p.Tyr196Cys)
NM_138691.3(TMC1):c.592del (p.Val198fs) rs1564530932
NM_138691.3(TMC1):c.596A>T (p.Asn199Ile) rs756960425
NM_138691.3(TMC1):c.617C>T (p.Thr206Ile)
NM_138691.3(TMC1):c.619T>A (p.Phe207Ile)
NM_138691.3(TMC1):c.628A>G (p.Ile210Val)
NM_138691.3(TMC1):c.642+4A>C rs2118056443
NM_138691.3(TMC1):c.65-10C>T rs576970134
NM_138691.3(TMC1):c.676A>G (p.Arg226Gly)
NM_138691.3(TMC1):c.685G>A (p.Val229Ile)
NM_138691.3(TMC1):c.688C>T (p.Pro230Ser) rs2118067302
NM_138691.3(TMC1):c.761T>C (p.Val254Ala)
NM_138691.3(TMC1):c.791G>C (p.Arg264Pro) rs147147941
NM_138691.3(TMC1):c.7C>A (p.Pro3Thr) rs569626109
NM_138691.3(TMC1):c.814A>C (p.Arg272=)
NM_138691.3(TMC1):c.841G>T (p.Gly281Trp) rs397517842
NM_138691.3(TMC1):c.853A>C (p.Ile285Leu) rs2118127067
NM_138691.3(TMC1):c.859T>C (p.Tyr287His)
NM_138691.3(TMC1):c.885-17A>G
NM_138691.3(TMC1):c.916G>A (p.Gly306Arg) rs2118177925
NM_138691.3(TMC1):c.932T>A (p.Phe311Tyr)
NM_138691.3(TMC1):c.935A>G (p.Asn312Ser)
NM_138691.3(TMC1):c.938T>C (p.Phe313Ser) rs1060499599
NM_138691.3(TMC1):c.991G>A (p.Ala331Thr) rs1470897776

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