ClinVar Miner

List of variants in gene TMC1 reported by PreventionGenetics, part of Exact Sciences

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Total variants: 23
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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.1764-5T>C rs373603119 0.00032
NM_138691.3(TMC1):c.473G>A (p.Arg158His) rs148340276 0.00012
NM_138691.3(TMC1):c.1263A>G (p.Pro421=) rs139985214 0.00007
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys) rs372710475 0.00005
NM_138691.3(TMC1):c.1584A>G (p.Thr528=) rs762248733 0.00002
NM_138691.3(TMC1):c.543T>G (p.Phe181Leu) rs989635871 0.00001
NM_138691.3(TMC1):c.1362A>G (p.Leu454=)
NM_138691.3(TMC1):c.16+4T>C
NM_138691.3(TMC1):c.1696C>T (p.Pro566Ser)
NM_138691.3(TMC1):c.1704C>T (p.Tyr568=)
NM_138691.3(TMC1):c.2050G>C (p.Asp684His)
NM_138691.3(TMC1):c.2237A>G (p.Lys746Arg)
NM_138691.3(TMC1):c.238GAA[3] (p.Glu83del) rs376040866
NM_138691.3(TMC1):c.619T>A (p.Phe207Ile)
NM_138691.3(TMC1):c.742-12G>A rs886038723
NM_138691.3(TMC1):c.742-1G>C
NM_138691.3(TMC1):c.759C>T (p.Ser253=)

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