ClinVar Miner

List of variants reported as pathogenic for Cardiac arrhythmia by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp) rs199473072 0.00009
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) rs121434420 0.00005
NM_000218.3(KCNQ1):c.477+5G>A rs397508111 0.00001
NM_000218.3(KCNQ1):c.914G>A (p.Trp305Ter) rs120074186 0.00001
NM_000335.5(SCN5A):c.1099C>T (p.Arg367Cys) rs199473097 0.00001
NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn) rs137854618 0.00001
NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His) rs1057517711 0.00001
NM_014252.4(SLC25A15):c.22C>T (p.Gln8Ter) rs1448259297 0.00001
NM_000218.3(KCNQ1):c.1066C>T (p.Gln356Ter) rs397508072
NM_000218.3(KCNQ1):c.153C>A (p.Tyr51Ter) rs397508096
NM_000218.3(KCNQ1):c.153C>G (p.Tyr51Ter) rs397508096
NM_000218.3(KCNQ1):c.704T>A (p.Ile235Asn) rs199472710
NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val) rs121912504
NM_000238.4(KCNH2):c.2884_2887dup (p.Pro963fs)
NM_000238.4(KCNH2):c.3105_3109dup (p.Asp1037fs) rs2116928557
NM_000238.4(KCNH2):c.817C>T (p.Arg273Ter) rs552583527
NM_000335.5(SCN5A):c.3762del (p.Leu1255fs) rs2125849694
NM_000335.5(SCN5A):c.4181G>A (p.Trp1394Ter)
NM_000335.5(SCN5A):c.4242+1G>C rs794728879
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) rs137854613
NM_000891.3(KCNJ2):c.245G>A (p.Arg82Gln) rs199473653
NM_000891.3(KCNJ2):c.919A>G (p.Met307Val) rs1555603994
NM_001005242.3(PKP2):c.1211dup (p.Val406fs) rs397516989
NM_001005242.3(PKP2):c.14del (p.Gly5fs) rs397516996
NM_001005242.3(PKP2):c.1881del (p.Lys628fs) rs764817683
NM_004415.4(DSP):c.3133C>T (p.Arg1045Ter) rs1554108012
NM_004415.4(DSP):c.699G>A (p.Trp233Ter) rs397516955

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