ClinVar Miner

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

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Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_000238.4(KCNH2):c.1539C>T (p.Phe513=) rs1805120 0.25427
NM_006172.4(NPPA):c.123+16C>T rs5064 0.13980
NM_001148.6(ANK2):c.7106T>C (p.Val2369Ala) rs28377576 0.12654
NM_000218.3(KCNQ1):c.1590+14T>C rs11024034 0.07860
NM_000891.3(KCNJ2):c.660C>T (p.Ser220=) rs7221086 0.06793
NM_001148.6(ANK2):c.3510A>G (p.Val1170=) rs35336373 0.02906
NM_001148.6(ANK2):c.384+19C>T rs45502093 0.02751
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_001148.6(ANK2):c.3796+18G>A rs66792339 0.02360
NM_000719.7(CACNA1C):c.5680+15C>T rs114036394 0.01782
NM_002230.4(JUP):c.867C>T (p.Thr289=) rs2230407 0.01591
NM_000719.7(CACNA1C):c.171C>T (p.Asp57=) rs34419050 0.01584
NM_001943.5(DSG2):c.3135A>C (p.Thr1045=) rs8095704 0.00801
NM_000218.3(KCNQ1):c.1927G>A (p.Gly643Ser) rs1800172 0.00760
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427 0.00734
NM_002230.4(JUP):c.1774-13C>T rs116772523 0.00553
NM_014697.3(NOS1AP):c.864C>T (p.Ser288=) rs77473623 0.00513
NM_000218.3(KCNQ1):c.1514+18C>T rs12577654 0.00444
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=) rs143906555 0.00397
NM_001035.3(RYR2):c.5586C>T (p.Asp1862=) rs193922628 0.00123
NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys) rs193922624 0.00013
NM_001148.6(ANK2):c.8166G>A (p.Met2722Ile) rs193922637 0.00007
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.1890G>A (p.Thr630=) rs1204915217 0.00001
NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn) rs137854618 0.00001
NM_000335.5(SCN5A):c.689T>C (p.Ile230Thr) rs199473073 0.00001
NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His) rs1057517711 0.00001
NM_001035.3(RYR2):c.4040T>G (p.Met1347Arg) rs193922625 0.00001
NM_004415.4(DSP):c.4518del (p.Arg1506fs) rs1289037294 0.00001
NM_005751.5(AKAP9):c.4837A>G (p.Met1613Val) rs193922723 0.00001
NM_013975.4(LIG3):c.1440T>C (p.Pro480=) rs193922690 0.00001
NM_199037.3(SCN1B):c.751G>A (p.Val251Ile) rs193922728 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.1810dup (p.Gln604fs) rs1848361555
NM_000218.3(KCNQ1):c.704T>A (p.Ile235Asn) rs199472710
NM_000219.6(KCNE1):c.30G>T (p.Thr10=) rs187686559
NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val) rs121912504
NM_000238.4(KCNH2):c.2003C>A (p.Ser668Ter) rs749211387
NM_000238.4(KCNH2):c.2510A>G (p.Asp837Gly) rs199473004
NM_000238.4(KCNH2):c.2884_2887dup (p.Pro963fs)
NM_000238.4(KCNH2):c.2959dup (p.Leu987fs) rs2116931511
NM_000238.4(KCNH2):c.3092del (p.Gly1031fs) rs1800940404
NM_000238.4(KCNH2):c.3099_3112del (p.Pro1034fs) rs1554424044
NM_000238.4(KCNH2):c.3100_3107delinsGGC (p.Pro1034fs) rs1800937691
NM_000335.5(SCN5A):c.2575C>T (p.Gln859Ter) rs794728865
NM_000335.5(SCN5A):c.2865_2866del (p.Glu955fs) rs756159737
NM_000335.5(SCN5A):c.3762del (p.Leu1255fs) rs2125849694
NM_000335.5(SCN5A):c.4181G>A (p.Trp1394Ter)
NM_000335.5(SCN5A):c.4717G>T (p.Glu1573Ter) rs199473620
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000335.5(SCN5A):c.5440_5443del (p.Ser1814fs) rs2061022558
NM_000719.7(CACNA1C):c.6031G>A (p.Val2011Ile) rs193922615
NM_000719.7(CACNA1C):c.6307G>T (p.Ala2103Ser) rs193922616
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_001035.3(RYR2):c.14314G>A (p.Gly4772Ser) rs193922622
NM_001677.4(ATP1B1):c.571C>T (p.Pro191Ser) rs267598155
NM_002230.4(JUP):c.909+6C>T rs193922705
NM_004415.4(DSP):c.3133C>T (p.Arg1045Ter) rs1554108012
NM_004415.4(DSP):c.6273del (p.Ala2092fs) rs794728146
NM_004415.4(DSP):c.699G>A (p.Trp233Ter) rs397516955
NM_004415.4(DSP):c.7372_7373del (p.Lys2458fs) rs1581823931
NM_199037.3(SCN1B):c.749G>C (p.Arg250Thr) rs67486287

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