ClinVar Miner

List of variants in gene TMC1 reported by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Total variants: 77
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HGVS dbSNP
NM_138691.2(TMC1):c.*15G>A rs727503489
NM_138691.2(TMC1):c.*1T>A rs727503488
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.1141T>A (p.Tyr381Asn) rs749491943
NM_138691.2(TMC1):c.1165C>T rs151001642
NM_138691.2(TMC1):c.1189G>A (p.Asp397Asn) rs185702148
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.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.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.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.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.1602C>G (p.Thr534=) rs111033462
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.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.1988A>G (p.Asp663Gly) rs397517837
NM_138691.2(TMC1):c.1992T>G (p.Cys664Trp) rs727503487
NM_138691.2(TMC1):c.2044G>C (p.Glu682Gln) rs199819595
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.2144A>T (p.Tyr715Phe) rs41310067
NM_138691.2(TMC1):c.215_219dup (p.Arg74fs) rs730880359
NM_138691.2(TMC1):c.2178G>A (p.Ala726=) rs555517698
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.22del (p.Ile8fs) rs727504554
NM_138691.2(TMC1):c.236+1G>A rs775428246
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.339G>A (p.Met113Ile) rs397517840
NM_138691.2(TMC1):c.342G>A
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.483G>A (p.Glu161=) rs375984349
NM_138691.2(TMC1):c.532G>A
NM_138691.2(TMC1):c.543T>G
NM_138691.2(TMC1):c.557C>G (p.Ala186Gly) rs727504470
NM_138691.2(TMC1):c.637C>T (p.Pro213Ser) rs745569653
NM_138691.2(TMC1):c.674C>T rs370088722
NM_138691.2(TMC1):c.684C>T (p.Thr228=) rs890529621
NM_138691.2(TMC1):c.741+1G>A
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.7C>A (p.Pro3Thr) rs569626109
NM_138691.2(TMC1):c.822G>A
NM_138691.2(TMC1):c.841G>T (p.Gly281Trp) rs397517842
NM_138691.2(TMC1):c.884+2dup rs876658020
NM_138691.2(TMC1):c.951C>G
NM_138691.2:c.(?_-52-7)_(16+6_?)del

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