ClinVar Miner

List of variants in gene TMC1

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Total variants: 151
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HGVS dbSNP
GRCh37/hg19 9q21.13(chr9:75109261-75179368)x1
GRCh37/hg19 9q21.13(chr9:75161655-75253728)x3
GRCh37/hg19 9q21.13(chr9:75161655-75429310)x1
GRCh37/hg19 9q21.13(chr9:75274024-75318551)x1
GRCh37/hg19 9q21.13(chr9:75425828-75464591)x1
NM_138691.2(TMC1):c.*106G>C rs79830675
NM_138691.2(TMC1):c.*156T>C rs545955592
NM_138691.2(TMC1):c.*15G>A rs727503489
NM_138691.2(TMC1):c.*183A>G rs71507808
NM_138691.2(TMC1):c.*1T>A rs727503488
NM_138691.2(TMC1):c.*28A>C rs151157872
NM_138691.2(TMC1):c.*51G>A rs771430357
NM_138691.2(TMC1):c.*93C>T rs184207177
NM_138691.2(TMC1):c.-124T>C rs533837914
NM_138691.2(TMC1):c.-219A>G rs7026304
NM_138691.2(TMC1):c.-220C>T rs1057515621
NM_138691.2(TMC1):c.-252C>T rs541857536
NM_138691.2(TMC1):c.-329C>A rs7856724
NM_138691.2(TMC1):c.-350C>T rs1022291966
NM_138691.2(TMC1):c.-468G>A rs7022441
NM_138691.2(TMC1):c.-540C>T rs112220638
NM_138691.2(TMC1):c.100C>T (p.Arg34Ter) rs121908073
NM_138691.2(TMC1):c.1018A>G (p.Met340Val) rs771281791
NM_138691.2(TMC1):c.1019T>C (p.Met340Thr) rs111033464
NM_138691.2(TMC1):c.1022A>C (p.Asn341Thr) rs727504568
NM_138691.2(TMC1):c.1030-3C>T rs370872111
NM_138691.2(TMC1):c.1070A>G (p.Asn357Ser) rs397517834
NM_138691.2(TMC1):c.1071C>T (p.Asn357=) rs1489881026
NM_138691.2(TMC1):c.1114G>A (p.Val372Met) rs367924428
NM_138691.2(TMC1):c.1141T>A (p.Tyr381Asn) rs749491943
NM_138691.2(TMC1):c.1143C>G (p.Tyr381Ter)
NM_138691.2(TMC1):c.1165C>T rs151001642
NM_138691.2(TMC1):c.1189G>A (p.Asp397Asn) rs185702148
NM_138691.2(TMC1):c.1209G>A (p.Trp403Ter)
NM_138691.2(TMC1):c.1220dup (p.Asn407fs) rs1564555185
NM_138691.2(TMC1):c.1224+2T>C rs1564555240
NM_138691.2(TMC1):c.1224+5G>A rs397517835
NM_138691.2(TMC1):c.1225-8C>T rs375785074
NM_138691.2(TMC1):c.1233G>A (p.Met411Ile) rs184603559
NM_138691.2(TMC1):c.1236del (p.Met413fs) rs876657727
NM_138691.2(TMC1):c.1253T>A (p.Met418Lys) rs786201027
NM_138691.2(TMC1):c.1259G>A (p.Cys420Tyr) rs1564556995
NM_138691.2(TMC1):c.1263A>G (p.Pro421=) rs139985214
NM_138691.2(TMC1):c.1265C>A (p.Thr422Lys) rs868082421
NM_138691.2(TMC1):c.1333C>T (p.Arg445Cys) rs372710475
NM_138691.2(TMC1):c.135C>A (p.Thr45=) rs111353632
NM_138691.2(TMC1):c.1369T>C (p.Phe457Leu) rs397517836
NM_138691.2(TMC1):c.1404+4A>G rs727503484
NM_138691.2(TMC1):c.141T>A (p.Asp47Glu) rs140388347
NM_138691.2(TMC1):c.1449A>C (p.Glu483Asp) rs1554728060
NM_138691.2(TMC1):c.1457T>C (p.Met486Thr) rs17058153
NM_138691.2(TMC1):c.145A>C (p.Ile49Leu) rs149947445
NM_138691.2(TMC1):c.1532C>A (p.Pro511His) rs727503483
NM_138691.2(TMC1):c.1532C>T (p.Pro511Leu) rs727503483
NM_138691.2(TMC1):c.1534C>T (p.Arg512Ter) rs200171616
NM_138691.2(TMC1):c.1543T>C (p.Cys515Arg) rs121908076
NM_138691.2(TMC1):c.1566+8C>T rs202184917
NM_138691.2(TMC1):c.1567-14T>G rs727503485
NM_138691.2(TMC1):c.1567-4A>G rs369562300
NM_138691.2(TMC1):c.1584A>G (p.Thr528=) rs762248733
NM_138691.2(TMC1):c.15dup (p.Val6fs) rs878853229
NM_138691.2(TMC1):c.16+1G>T
NM_138691.2(TMC1):c.16+94T>G
NM_138691.2(TMC1):c.1602C>G (p.Thr534=) rs111033462
NM_138691.2(TMC1):c.1608C>T (p.Tyr536=) rs552170649
NM_138691.2(TMC1):c.1609G>A (p.Val537Ile) rs150206751
NM_138691.2(TMC1):c.1622T>C (p.Ile541Thr) rs201955337
NM_138691.2(TMC1):c.1676G>A (p.Trp559Ter) rs876657728
NM_138691.2(TMC1):c.1677G>A (p.Trp559Ter) rs876657729
NM_138691.2(TMC1):c.1705A>G (p.Thr569Ala) rs148971770
NM_138691.2(TMC1):c.1713C>T (p.Phe571=) rs34532421
NM_138691.2(TMC1):c.1714G>A (p.Asp572Asn) rs121908072
NM_138691.2(TMC1):c.1714G>C (p.Asp572His) rs121908072
NM_138691.2(TMC1):c.1728C>G (p.Asn576Lys)
NM_138691.2(TMC1):c.1763+3A>G rs370898981
NM_138691.2(TMC1):c.1796G>A (p.Gly599Asp) rs727503486
NM_138691.2(TMC1):c.1902C>G (p.Asn634Lys) rs767285617
NM_138691.2(TMC1):c.1939T>C rs138527651
NM_138691.2(TMC1):c.1960A>G (p.Met654Val) rs121908074
NM_138691.2(TMC1):c.1988A>G (p.Asp663Gly) rs397517837
NM_138691.2(TMC1):c.1992T>G (p.Cys664Trp) rs727503487
NM_138691.2(TMC1):c.2004-46C>T
NM_138691.2(TMC1):c.2044G>C (p.Glu682Gln) rs199819595
NM_138691.2(TMC1):c.2050G>A (p.Asp684Asn) rs563322370
NM_138691.2(TMC1):c.2068G>A (p.Ala690Thr) rs397517838
NM_138691.2(TMC1):c.2070G>A (p.Ala690=) rs145757452
NM_138691.2(TMC1):c.2129+15T>A
NM_138691.2(TMC1):c.2130-1del rs1554731002
NM_138691.2(TMC1):c.2144A>T (p.Tyr715Phe) rs41310067
NM_138691.2(TMC1):c.215_219dup (p.Arg74fs) rs730880359
NM_138691.2(TMC1):c.2177C>T (p.Ala726Val)
NM_138691.2(TMC1):c.2178G>A (p.Ala726=) rs555517698
NM_138691.2(TMC1):c.2204A>C (p.Lys735Thr) rs1057515624
NM_138691.2(TMC1):c.2218G>T (p.Glu740Ter) rs1564583413
NM_138691.2(TMC1):c.2230C>T (p.Arg744Ter) rs150738413
NM_138691.2(TMC1):c.2260+3_2260+5del rs546307383
NM_138691.2(TMC1):c.2261-15_2261-14del rs777589679
NM_138691.2(TMC1):c.229del (p.Arg77fs) rs878853230
NM_138691.2(TMC1):c.22del (p.Ile8fs) rs727504554
NM_138691.2(TMC1):c.236+1G>A rs775428246
NM_138691.2(TMC1):c.237-5T>A rs1057515622
NM_138691.2(TMC1):c.238_240GAA[3] (p.Glu83del) rs376040866
NM_138691.2(TMC1):c.241G>A (p.Glu81Lys) rs1796993
NM_138691.2(TMC1):c.265T>C (p.Leu89=) rs886043585
NM_138691.2(TMC1):c.339G>A (p.Met113Ile) rs397517840
NM_138691.2(TMC1):c.342G>A
NM_138691.2(TMC1):c.373A>C (p.Lys125Gln) rs377607548
NM_138691.2(TMC1):c.403G>A (p.Gly135Arg) rs397517841
NM_138691.2(TMC1):c.421C>T (p.Arg141Trp) rs11143384
NM_138691.2(TMC1):c.448G>A (p.Ala150Thr) rs534560340
NM_138691.2(TMC1):c.45C>T (p.Asp15=) rs2589615
NM_138691.2(TMC1):c.472C>T (p.Arg158Cys) rs200841002
NM_138691.2(TMC1):c.473G>A (p.Arg158His) rs148340276
NM_138691.2(TMC1):c.483G>A (p.Glu161=) rs375984349
NM_138691.2(TMC1):c.532G>A
NM_138691.2(TMC1):c.534A>T (p.Glu178Asp) rs886042321
NM_138691.2(TMC1):c.543T>G
NM_138691.2(TMC1):c.557C>G (p.Ala186Gly) rs727504470
NM_138691.2(TMC1):c.582G>A (p.Trp194Ter) rs1172357346
NM_138691.2(TMC1):c.592del (p.Val198fs) rs1564530932
NM_138691.2(TMC1):c.596A>T (p.Asn199Ile) rs756960425
NM_138691.2(TMC1):c.603T>G (p.Val201=) rs372449375
NM_138691.2(TMC1):c.624C>A (p.Ser208Arg) rs781747541
NM_138691.2(TMC1):c.637C>T (p.Pro213Ser) rs745569653
NM_138691.2(TMC1):c.65-10C>T
NM_138691.2(TMC1):c.674C>T rs370088722
NM_138691.2(TMC1):c.684C>T (p.Thr228=) rs890529621
NM_138691.2(TMC1):c.703G>T (p.Ala235Ser) rs200831684
NM_138691.2(TMC1):c.741+1G>A
NM_138691.2(TMC1):c.742-12G>A rs886038723
NM_138691.2(TMC1):c.760G>A (p.Val254Ile) rs111033497
NM_138691.2(TMC1):c.777T>C (p.Tyr259=) rs727503482
NM_138691.2(TMC1):c.791G>C (p.Arg264Pro) rs147147941
NM_138691.2(TMC1):c.795A>C (p.Thr265=) rs140398130
NM_138691.2(TMC1):c.7C>A (p.Pro3Thr) rs569626109
NM_138691.2(TMC1):c.822G>A
NM_138691.2(TMC1):c.830A>G (p.Tyr277Cys)
NM_138691.2(TMC1):c.841G>T (p.Gly281Trp) rs397517842
NM_138691.2(TMC1):c.884+2dup rs876658020
NM_138691.2(TMC1):c.885-2A>C rs1564554148
NM_138691.2(TMC1):c.910G>A (p.Gly304Arg) rs1008565149
NM_138691.2(TMC1):c.924C>G (p.Asp308Glu) rs113342704
NM_138691.2(TMC1):c.938T>C (p.Phe313Ser) rs1060499599
NM_138691.2(TMC1):c.945G>A (p.Trp315Ter) rs1564554255
NM_138691.2(TMC1):c.951C>G
NM_138691.2(TMC1):c.956C>G (p.Thr319Ser) rs142629075
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_138691.2:c.(?_-52-7)_(16+6_?)del

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