ClinVar Miner

List of variants in gene TMC1 studied for not specified

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Total variants: 69
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HGVS dbSNP gnomAD frequency
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.1713C>T (p.Phe571=) rs34532421 0.08866
NM_138691.3(TMC1):c.1457T>C (p.Met486Thr) rs17058153 0.01664
NM_138691.3(TMC1):c.421C>T (p.Arg141Trp) rs11143384 0.00691
NM_138691.3(TMC1):c.2260+3_2260+5del rs546307383 0.00308
NM_138691.3(TMC1):c.2144A>T (p.Tyr715Phe) rs41310067 0.00070
NM_138691.3(TMC1):c.141T>A (p.Asp47Glu) rs140388347 0.00061
NM_138691.3(TMC1):c.1566+8C>T rs202184917 0.00059
NM_138691.3(TMC1):c.1602C>G (p.Thr534=) rs111033462 0.00044
NM_138691.3(TMC1):c.46G>A (p.Glu16Lys) rs140437301 0.00036
NM_138691.3(TMC1):c.1019T>C (p.Met340Thr) rs111033464 0.00034
NM_138691.3(TMC1):c.1705A>G (p.Thr569Ala) rs148971770 0.00029
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.822G>A (p.Pro274=) rs370523728 0.00016
NM_138691.3(TMC1):c.1225-8C>T rs375785074 0.00013
NM_138691.3(TMC1):c.145A>C (p.Ile49Leu) rs149947445 0.00011
NM_138691.3(TMC1):c.1030-3C>T rs370872111 0.00010
NM_138691.3(TMC1):c.2230C>T (p.Arg744Ter) rs150738413 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.2129+15T>A rs747921456 0.00008
NM_138691.3(TMC1):c.1263A>G (p.Pro421=) rs139985214 0.00007
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.483G>A (p.Glu161=) rs375984349 0.00006
NM_138691.3(TMC1):c.1708G>A (p.Glu570Lys) rs369890353 0.00005
NM_138691.3(TMC1):c.1567-14T>G rs727503485 0.00004
NM_138691.3(TMC1):c.1018A>G (p.Met340Val) rs771281791 0.00003
NM_138691.3(TMC1):c.2192A>G (p.Lys731Arg) rs775993082 0.00003
NM_138691.3(TMC1):c.936T>G (p.Asn312Lys) rs148443938 0.00003
NM_138691.3(TMC1):c.1070A>G (p.Asn357Ser) rs397517834 0.00002
NM_138691.3(TMC1):c.1404+4A>G rs727503484 0.00002
NM_138691.3(TMC1):c.2178G>A (p.Ala726=) rs555517698 0.00002
NM_138691.3(TMC1):c.342G>A (p.Glu114=) rs370554600 0.00002
NM_138691.3(TMC1):c.777T>C (p.Tyr259=) rs727503482 0.00002
NM_138691.3(TMC1):c.1071C>T (p.Asn357=) rs1489881026 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.2044G>C (p.Glu682Gln) rs199819595 0.00001
NM_138691.3(TMC1):c.2068G>A (p.Ala690Thr) rs397517838 0.00001
NM_138691.3(TMC1):c.543T>G (p.Phe181Leu) rs989635871 0.00001
NM_138691.3(TMC1):c.637C>T (p.Pro213Ser) rs745569653 0.00001
NM_138691.3(TMC1):c.684C>T (p.Thr228=) rs890529621 0.00001
NM_138691.3(TMC1):c.884+2dup rs876658020 0.00001
NM_138691.3(TMC1):c.*15G>A rs727503489
NM_138691.3(TMC1):c.*1T>A rs727503488
NM_138691.3(TMC1):c.1022A>C (p.Asn341Thr) rs727504568
NM_138691.3(TMC1):c.1224+5G>A rs397517835
NM_138691.3(TMC1):c.1265C>A (p.Thr422Lys) rs868082421
NM_138691.3(TMC1):c.1369T>C (p.Phe457Leu) rs397517836
NM_138691.3(TMC1):c.1532C>A (p.Pro511His) rs727503483
NM_138691.3(TMC1):c.1567-4A>G rs369562300
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.1874G>C (p.Arg625Thr) rs762417969
NM_138691.3(TMC1):c.1902C>G (p.Asn634Lys) rs767285617
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.238GAA[3] (p.Glu83del) rs376040866
NM_138691.3(TMC1):c.403G>A (p.Gly135Arg) rs397517841
NM_138691.3(TMC1):c.532G>A (p.Glu178Lys) rs1588060117
NM_138691.3(TMC1):c.557C>G (p.Ala186Gly) rs727504470
NM_138691.3(TMC1):c.742-12G>A rs886038723
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.841G>T (p.Gly281Trp) rs397517842
NM_138691.3(TMC1):c.951C>G (p.Val317=) rs1588083627

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