ClinVar Miner

List of variants reported as pathogenic for Cardiac arrhythmia

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Total variants: 120
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.671C>T (p.Thr224Met) rs199472706 0.00011
NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp) rs199473072 0.00009
NM_000218.3(KCNQ1):c.1766G>A (p.Gly589Asp) rs120074190 0.00006
NM_000238.4(KCNH2):c.1655T>C (p.Leu552Ser) rs199472918 0.00006
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) rs121434420 0.00005
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500 0.00003
NM_000335.5(SCN5A):c.1127G>A (p.Arg376His) rs199473101 0.00003
NM_000218.3(KCNQ1):c.569G>A (p.Arg190Gln) rs120074178 0.00002
NM_000218.3(KCNQ1):c.1031C>T (p.Ala344Val) rs199472763 0.00001
NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter) rs397508097 0.00001
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815 0.00001
NM_000218.3(KCNQ1):c.477+1G>A rs762814879 0.00001
NM_000218.3(KCNQ1):c.477+5G>A rs397508111 0.00001
NM_000218.3(KCNQ1):c.502G>A (p.Gly168Arg) rs179489 0.00001
NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser) rs199473394 0.00001
NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys) rs199473457 0.00001
NM_000218.3(KCNQ1):c.728G>A (p.Arg243His) rs120074196 0.00001
NM_000218.3(KCNQ1):c.830C>T (p.Ser277Leu) rs199472730 0.00001
NM_000218.3(KCNQ1):c.914G>A (p.Trp305Ter) rs120074186 0.00001
NM_000238.4(KCNH2):c.2254C>T (p.Arg752Trp) rs199472990 0.00001
NM_000335.5(SCN5A):c.1099C>T (p.Arg367Cys) rs199473097 0.00001
NM_000335.5(SCN5A):c.1100G>A (p.Arg367His) rs28937318 0.00001
NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn) rs137854618 0.00001
NM_000335.5(SCN5A):c.3837+1G>A rs1366120635 0.00001
NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His) rs28937316 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 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_000018.4(ACADVL):c.996del (p.Ala333fs) rs1057516843
NM_000218.3(KCNQ1):c.1022C>A (p.Ala341Glu) rs12720459
NM_000218.3(KCNQ1):c.1033-1_1117dup
NM_000218.3(KCNQ1):c.1043_1054delinsCA (p.Gly348fs) rs1848574802
NM_000218.3(KCNQ1):c.1066C>T (p.Gln356Ter) rs397508072
NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter) rs397508075
NM_000218.3(KCNQ1):c.1121T>A (p.Leu374His) rs199472767
NM_000218.3(KCNQ1):c.1201dup (p.Arg401fs) rs397508082
NM_000218.3(KCNQ1):c.1265del (p.Lys422fs) rs397508083
NM_000218.3(KCNQ1):c.1291dup (p.Val431fs) rs397508085
NM_000218.3(KCNQ1):c.1330del (p.Thr444fs) rs1848631108
NM_000218.3(KCNQ1):c.1343del (p.Pro448fs) rs397508087
NM_000218.3(KCNQ1):c.1354del (p.Arg452fs) rs2133760795
NM_000218.3(KCNQ1):c.1356del (p.Leu453fs) rs1848632145
NM_000218.3(KCNQ1):c.1394-1G>T rs775537394
NM_000218.3(KCNQ1):c.1443_1461dup (p.Asp488fs) rs1849966157
NM_000218.3(KCNQ1):c.1480G>T (p.Glu494Ter)
NM_000218.3(KCNQ1):c.1486_1487del (p.Leu496fs) rs397508090
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.165_187del (p.Gly57fs) rs794728563
NM_000218.3(KCNQ1):c.1663C>T (p.Arg555Cys) rs120074185
NM_000218.3(KCNQ1):c.1721del (p.Ile574fs)
NM_000218.3(KCNQ1):c.1842_1844del (p.His614del) rs397508101
NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs) rs397508104
NM_000218.3(KCNQ1):c.443del (p.Tyr148fs) rs878854347
NM_000218.3(KCNQ1):c.513C>A (p.Tyr171Ter) rs139042529
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) rs397508118
NM_000218.3(KCNQ1):c.585del (p.Lys196fs) rs397508120
NM_000218.3(KCNQ1):c.704T>A (p.Ile235Asn) rs199472710
NM_000218.3(KCNQ1):c.730C>T (p.Gln244Ter) rs1554893091
NM_000218.3(KCNQ1):c.745_746dup (p.Leu250fs) rs1221462654
NM_000218.3(KCNQ1):c.862_880del (p.Val288fs) rs397508129
NM_000238.4(KCNH2):c.100del (p.Ala34fs) rs794728506
NM_000238.4(KCNH2):c.106del (p.Val36fs) rs794728507
NM_000238.4(KCNH2):c.1142del (p.Gly381fs) rs794728497
NM_000238.4(KCNH2):c.1201_1204dup (p.His402fs) rs794728434
NM_000238.4(KCNH2):c.154del (p.Cys52fs) rs794728508
NM_000238.4(KCNH2):c.1629dup (p.Glu544fs) rs2116963916
NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val) rs121912504
NM_000238.4(KCNH2):c.1815del (p.Ser606fs) rs794728499
NM_000238.4(KCNH2):c.2053del (p.Arg685fs) rs794728500
NM_000238.4(KCNH2):c.244_252dup (p.Gln84_Ala85insIleAlaGln) rs794728476
NM_000238.4(KCNH2):c.2453C>T (p.Ser818Leu) rs121912510
NM_000238.4(KCNH2):c.2742_2775del (p.Ala915fs)
NM_000238.4(KCNH2):c.2775del (p.Pro926fs) rs794728455
NM_000238.4(KCNH2):c.2775dup (p.Pro926fs) rs794728455
NM_000238.4(KCNH2):c.2777del (p.Pro926fs) rs794728456
NM_000238.4(KCNH2):c.2783_2789del (p.Gly928fs) rs794728457
NM_000238.4(KCNH2):c.2785dup (p.Glu929fs) rs794728458
NM_000238.4(KCNH2):c.2884_2887dup (p.Pro963fs)
NM_000238.4(KCNH2):c.2892del (p.Gly965fs) rs794728462
NM_000238.4(KCNH2):c.2959_2960del (p.Leu987fs) rs748706373
NM_000238.4(KCNH2):c.2966-2_2967dup rs794728464
NM_000238.4(KCNH2):c.3002G>A (p.Trp1001Ter) rs794728401
NM_000238.4(KCNH2):c.3079dup (p.Leu1027fs) rs794728465
NM_000238.4(KCNH2):c.3096_3099dup (p.Pro1034fs) rs794728467
NM_000238.4(KCNH2):c.3105_3109dup (p.Asp1037fs) rs2116928557
NM_000238.4(KCNH2):c.3105_3112dup (p.Val1038fs) rs794728470
NM_000238.4(KCNH2):c.3136del (p.Gln1046fs) rs794728472
NM_000238.4(KCNH2):c.373_374insGTGG (p.Phe125fs) rs794728489
NM_000238.4(KCNH2):c.735_754dup (p.Arg252fs) rs794728425
NM_000238.4(KCNH2):c.809_812delinsAAAAGC (p.Thr270fs) rs794728426
NM_000238.4(KCNH2):c.817C>T (p.Arg273Ter) rs552583527
NM_000238.4(KCNH2):c.853_859del (p.Ala285fs) rs794728428
NM_000335.5(SCN5A):c.127C>T (p.Arg43Ter) rs1553607597
NM_000335.5(SCN5A):c.1462G>T (p.Glu488Ter)
NM_000335.5(SCN5A):c.1482_1486delinsTCTG (p.Pro495fs)
NM_000335.5(SCN5A):c.1603C>T (p.Arg535Ter) rs1417036453
NM_000335.5(SCN5A):c.189del (p.Lys63fs) rs2062564269
NM_000335.5(SCN5A):c.2550_2551dup (p.Phe851fs) rs397514450
NM_000335.5(SCN5A):c.2849_2850del (p.Pro950fs) rs2125871836
NM_000335.5(SCN5A):c.3157G>T (p.Glu1053Ter)
NM_000335.5(SCN5A):c.3595dup (p.His1199fs) rs1559745565
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.4325del (p.Asn1442fs)
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) rs137854613
NM_000335.5(SCN5A):c.535C>T (p.Arg179Ter) rs1480085793
NM_000335.5(SCN5A):c.611+1G>A rs794728843
NM_000335.5(SCN5A):c.664C>T (p.Arg222Ter) rs794728849
NM_000335.5(SCN5A):c.934+1G>A rs1320531023
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_001040151.2(SCN3B):c.423C>G (p.Ile141Met) rs879253730
NM_004415.4(DSP):c.3133C>T (p.Arg1045Ter) rs1554108012
NM_004415.4(DSP):c.699G>A (p.Trp233Ter) rs397516955

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