ClinVar Miner

List of variants studied for cardiac rhythm disease by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (118):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_001232.4(CASQ2):c.196A>G (p.Thr66Ala) rs4074536 0.34486
NM_002234.4(KCNA5):c.381C>T (p.Ser127=) rs45504599 0.02823
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_001232.4(CASQ2):c.1014+9C>T rs77775029 0.02121
NM_001232.4(CASQ2):c.1005T>C (p.Asn335=) rs28730712 0.02116
NM_006073.4(TRDN):c.1620A>G (p.Ile540Met) rs7771303 0.01556
NM_006073.4(TRDN):c.1096G>A (p.Ala366Thr) rs35047281 0.01253
NM_006073.4(TRDN):c.1016G>A (p.Ser339Asn) rs35766971 0.01214
NM_002234.4(KCNA5):c.751G>A (p.Ala251Thr) rs12720442 0.01115
NM_006073.4(TRDN):c.403G>A (p.Glu135Lys) rs192289289 0.00900
NM_006073.4(TRDN):c.1871-15G>A rs59935057 0.00724
NM_006073.4(TRDN):c.1538-13T>G rs55704802 0.00651
NM_002234.4(KCNA5):c.1733G>A (p.Arg578Lys) rs12720445 0.00612
NM_002234.4(KCNA5):c.929C>T (p.Pro310Leu) rs17215402 0.00439
NM_002234.4(KCNA5):c.570C>T (p.Asn190=) rs12720444 0.00368
NM_002234.4(KCNA5):c.919C>T (p.Pro307Ser) rs17215409 0.00241
NM_006073.4(TRDN):c.430C>T (p.His144Tyr) rs79182520 0.00232
NM_006073.4(TRDN):c.793+61T>C rs572614305 0.00177
NM_006073.4(TRDN):c.1367A>G (p.Gln456Arg) rs200243235 0.00128
NM_002234.4(KCNA5):c.634C>T (p.Arg212Cys) rs77281462 0.00088
NM_001232.4(CASQ2):c.730C>T (p.His244Tyr) rs142036299 0.00076
NM_006073.4(TRDN):c.1895G>A (p.Arg632Lys) rs181571822 0.00044
NM_017636.4(TRPM4):c.1409A>G (p.Asn470Ser) rs746075675 0.00019
NM_017636.4(TRPM4):c.2774A>C (p.Lys925Thr) rs752778561 0.00019
NM_002234.4(KCNA5):c.1327A>G (p.Ile443Val) rs370591031 0.00010
NM_002234.4(KCNA5):c.544G>A (p.Gly182Arg) rs755408841 0.00008
NM_006073.4(TRDN):c.1105G>A (p.Ala369Thr) rs369198088 0.00006
NM_017636.4(TRPM4):c.246G>T (p.Gly82=) rs756668921 0.00006
NM_006073.4(TRDN):c.1708A>G (p.Ile570Val) rs915231524 0.00003
NM_006073.4(TRDN):c.1990G>A (p.Val664Ile) rs756257644 0.00002
NM_006073.4(TRDN):c.284C>T (p.Ala95Val) rs764770921 0.00001
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del) rs397516641
NM_001232.4(CASQ2):c.926A>T (p.Asp309Val) rs72703607
NM_002234.4(KCNA5):c.1641G>T (p.Gly547=) rs1278466330
NM_002234.4(KCNA5):c.213_245del (p.Asp72_Pro82del) rs144879674
NM_002234.4(KCNA5):c.92G>T (p.Gly31Val) rs61737395
NM_004588.5(SCN2B):c.70+11_70+12insCT rs72544143
NM_006073.4(TRDN):c.1313T>A (p.Ile438Asn) rs2873479
NM_006073.4(TRDN):c.1630G>A (p.Asp544Asn) rs1777254669
NM_006073.4(TRDN):c.1672+6T>C
NM_006073.4(TRDN):c.1721-4A>T rs60743141
NM_006073.4(TRDN):c.425-11dup rs950851610
NM_006073.4(TRDN):c.497AAAAAG[1] (p.166EK[1]) rs148596612
NM_006073.4(TRDN):c.931+18del rs201431159
NM_017636.4(TRPM4):c.169G>C (p.Val57Leu) rs750590052
NM_017636.4(TRPM4):c.2529G>A (p.Gly843=) rs754769591
NM_017636.4(TRPM4):c.2778+8del rs1600513831

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