ClinVar Miner

List of variants in gene TMC1 studied for autosomal recessive disease

Included ClinVar conditions (1198):
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Gene type:
ClinVar version:
Total variants: 123
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HGVS dbSNP gnomAD frequency
NM_138691.3(TMC1):c.-219A>G rs7026304 0.55869
NM_138691.3(TMC1):c.-468G>A rs7022441 0.53167
NM_138691.3(TMC1):c.45C>T (p.Asp15=) rs2589615 0.51851
NM_138691.3(TMC1):c.241G>A (p.Glu81Lys) rs1796993 0.21988
NM_138691.3(TMC1):c.-329C>A rs7856724 0.13978
NM_138691.3(TMC1):c.1713C>T (p.Phe571=) rs34532421 0.08866
NM_138691.3(TMC1):c.-540C>T rs112220638 0.02586
NM_138691.3(TMC1):c.*183A>G rs71507808 0.02514
NM_138691.3(TMC1):c.1457T>C (p.Met486Thr) rs17058153 0.01664
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.1763+3A>G rs370898981 0.00056
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.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.100C>T (p.Arg34Ter) rs121908073 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.1567-14T>G rs727503485 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.1141T>A (p.Tyr381Asn) rs749491943 0.00003
NM_138691.3(TMC1):c.236+1G>A rs775428246 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.1312G>A (p.Ala438Thr) rs745495139 0.00002
NM_138691.3(TMC1):c.1584A>G (p.Thr528=) rs762248733 0.00002
NM_138691.3(TMC1):c.1939T>C (p.Ser647Pro) rs138527651 0.00002
NM_138691.3(TMC1):c.1960A>G (p.Met654Val) rs121908074 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.821C>T (p.Pro274Leu) rs755694066 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.1810C>T (p.Arg604Ter) rs777777359 0.00001
NM_138691.3(TMC1):c.237-5T>A rs1057515622 0.00001
NM_138691.3(TMC1):c.564C>A (p.Tyr188Ter) rs1178631956 0.00001
NM_138691.3(TMC1):c.596A>G (p.Asn199Ser) rs756960425 0.00001
NM_138691.3(TMC1):c.797T>C (p.Ile266Thr) rs747645756 0.00001
NM_138691.3(TMC1):c.976G>A (p.Gly326Ser) rs1481117336 0.00001
NM_138691.2(TMC1):c.[1165C>T];[1939T>C]
NM_138691.2(TMC1):c.[1210T>C];[1939T>C]
NM_138691.2(TMC1):c.[1810C>T];[1939T>C]
NM_138691.2(TMC1):c.[1810C>T];[674C>T]
NM_138691.3(TMC1):c.*10T>C rs1829120621
NM_138691.3(TMC1):c.-442T>G rs1823318883
NM_138691.3(TMC1):c.1143C>G (p.Tyr381Ter) rs757327146
NM_138691.3(TMC1):c.1184del (p.Gln395fs) rs2118181420
NM_138691.3(TMC1):c.1201C>A (p.Leu401Ile) rs1271495869
NM_138691.3(TMC1):c.1209G>A (p.Trp403Ter) rs773851192
NM_138691.3(TMC1):c.1220dup (p.Asn407fs) rs1564555185
NM_138691.3(TMC1):c.1224+2T>C rs1564555240
NM_138691.3(TMC1):c.1236del (p.Met413fs) rs876657727
NM_138691.3(TMC1):c.1250G>A (p.Gly417Glu)
NM_138691.3(TMC1):c.1253T>A (p.Met418Lys) rs786201027
NM_138691.3(TMC1):c.1256T>C (p.Phe419Ser)
NM_138691.3(TMC1):c.1259G>A (p.Cys420Tyr) rs1564556995
NM_138691.3(TMC1):c.1363T>C (p.Tyr455His) rs1828278868
NM_138691.3(TMC1):c.1417A>C (p.Lys473Gln) rs993650641
NM_138691.3(TMC1):c.1444T>C (p.Trp482Arg)
NM_138691.3(TMC1):c.150del (p.Asn50fs) rs2132189585
NM_138691.3(TMC1):c.1532C>A (p.Pro511His) rs727503483
NM_138691.3(TMC1):c.1532C>T (p.Pro511Leu) rs727503483
NM_138691.3(TMC1):c.1543T>C (p.Cys515Arg) rs121908076
NM_138691.3(TMC1):c.1551A>C (p.Glu517Asp) rs2118194338
NM_138691.3(TMC1):c.15dup (p.Val6fs) rs878853229
NM_138691.3(TMC1):c.16+1G>T rs1169090943
NM_138691.3(TMC1):c.1627G>A (p.Asp543Asn)
NM_138691.3(TMC1):c.1714G>A (p.Asp572Asn) rs121908072
NM_138691.3(TMC1):c.1714G>C (p.Asp572His) rs121908072
NM_138691.3(TMC1):c.1728C>G (p.Asn576Lys) rs761261855
NM_138691.3(TMC1):c.1750C>T (p.Gln584Ter)
NM_138691.3(TMC1):c.1753_1754insA (p.Gly585fs) rs1828785763
NM_138691.3(TMC1):c.1763+1G>T rs2118284330
NM_138691.3(TMC1):c.1765A>G (p.Met589Val) rs2118298286
NM_138691.3(TMC1):c.1788C>A (p.Ser596Arg) rs1290684098
NM_138691.3(TMC1):c.1975C>A (p.Pro659Thr) rs2118299337
NM_138691.3(TMC1):c.2002A>G (p.Ser668Gly) rs1828864557
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.2035G>A (p.Glu679Lys) rs1828965654
NM_138691.3(TMC1):c.2163G>C (p.Lys721Asn) rs1588105861
NM_138691.3(TMC1):c.2204A>C (p.Lys735Thr) rs1057515624
NM_138691.3(TMC1):c.2218G>T (p.Glu740Ter) rs1564583413
NM_138691.3(TMC1):c.229del (p.Arg77fs) rs878853230
NM_138691.3(TMC1):c.373A>C (p.Lys125Gln) rs377607548
NM_138691.3(TMC1):c.505C>G (p.Pro169Ala) rs1827407033
NM_138691.3(TMC1):c.545G>T (p.Gly182Val) rs199560971
NM_138691.3(TMC1):c.596A>T (p.Asn199Ile) rs756960425
NM_138691.3(TMC1):c.64+2T>A
NM_138691.3(TMC1):c.642+4A>C rs2118056443
NM_138691.3(TMC1):c.859T>C (p.Tyr287His)
NM_138691.3(TMC1):c.871del (p.Val291fs)
NM_138691.3(TMC1):c.885-2A>C rs1564554148
NM_138691.3(TMC1):c.938T>C (p.Phe313Ser) rs1060499599
NM_138691.3(TMC1):c.945G>A (p.Trp315Ter) rs1564554255

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