ClinVar Miner

List of variants in gene TRPM4 reported by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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Gene type:
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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_017636.4(TRPM4):c.375G>A (p.Ser125=) rs34333830 0.05846
NM_017636.4(TRPM4):c.1041G>T (p.Leu347=) rs61732831 0.03430
NM_017636.4(TRPM4):c.2982G>A (p.Ser994=) rs1175810 0.03027
NM_017636.4(TRPM4):c.3024G>A (p.Ala1008=) rs35145363 0.02710
NM_017636.4(TRPM4):c.2934T>C (p.Ile978=) rs35516880 0.02629
NM_017636.4(TRPM4):c.449-10G>A rs78444754 0.02545
NM_017636.4(TRPM4):c.783G>A (p.Lys261=) rs111930830 0.01878
NM_017636.4(TRPM4):c.322C>T (p.Arg108Cys) rs115335683 0.01074
NM_017636.4(TRPM4):c.3082C>T (p.Leu1028=) rs79286201 0.01042
NM_017636.4(TRPM4):c.448+6C>T rs78051297 0.01005
NM_017636.4(TRPM4):c.2619C>T (p.Thr873=) rs144544237 0.00790
NM_017636.4(TRPM4):c.755G>A (p.Arg252His) rs146564314 0.00453
NM_017636.4(TRPM4):c.3405A>C (p.Ala1135=) rs144647383 0.00426
NM_017636.4(TRPM4):c.618G>A (p.Ser206=) rs142788545 0.00422
NM_017636.4(TRPM4):c.870C>T (p.Asn290=) rs141997826 0.00389
NM_017636.4(TRPM4):c.1682A>C (p.Asp561Ala) rs56355369 0.00371
NM_017636.4(TRPM4):c.3611C>T (p.Pro1204Leu) rs150391806 0.00310
NM_017636.4(TRPM4):c.988G>A (p.Glu330Lys) rs145771389 0.00113
NM_017636.4(TRPM4):c.1376G>A (p.Arg459His) rs142312281 0.00086
NM_017636.4(TRPM4):c.2531G>A (p.Gly844Asp) rs200038418 0.00064
NM_017636.4(TRPM4):c.308A>G (p.Tyr103Cys) rs144781529 0.00039
NM_017636.4(TRPM4):c.2761G>A (p.Val921Ile) rs377359117 0.00007
NM_017636.4(TRPM4):c.2629C>T (p.Leu877=) rs769392495 0.00004
NM_017636.4(TRPM4):c.216C>T (p.Thr72=) rs767155832 0.00001
NM_017636.4(TRPM4):c.2583C>T (p.Ala861=) rs1472609688 0.00001
NM_017636.4(TRPM4):c.651G>A (p.Pro217=) rs758473371 0.00001
NM_017636.4(TRPM4):c.2040G>T (p.Trp680Cys)
NM_017636.4(TRPM4):c.2280G>A (p.Gly760=) rs536942370
NM_017636.4(TRPM4):c.2283_2294del (p.759_762CGGR[1]) rs113100797
NM_017636.4(TRPM4):c.2767G>A (p.Val923Met) rs759518981
NM_017636.4(TRPM4):c.3210C>T (p.His1070=) rs748532297
NM_017636.4(TRPM4):c.641G>A (p.Arg214His) rs145878044

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