ClinVar Miner

List of variants reported as likely pathogenic for Long QT syndrome

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ClinVar version:
Total variants: 136
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HGVS dbSNP
NC_000007.13:g.(?_150644396)_(150649961_?)dup
NC_000007.13:g.(?_150644460_150650773dup
NC_000007.14:g.(?_150951438)_(150959746_?)del
NC_000011.10:g.(?_2587560)_(2587702_?)del
NM_000218.2(KCNQ1):c.341T>C (p.Leu114Pro) rs199473448
NM_000218.3(KCNQ1):c.1032+1_1129-1del
NM_000218.3(KCNQ1):c.1032+2T>C
NM_000218.3(KCNQ1):c.1252-2A>C
NM_000218.3(KCNQ1):c.1394-1G>C
NM_000218.3(KCNQ1):c.1732+1G>A
NM_000218.3(KCNQ1):c.373T>A (p.Tyr125Asn) rs794728578
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456
NM_000218.3(KCNQ1):c.780+1G>A
NM_000219.4:c.[172A>C;176T>C] rs281865421
NM_000219.6(KCNE1):c.12dup (p.Asn5Ter) rs1131691762
NM_000219.6(KCNE1):c.1A>T (p.Met1Leu)
NM_000219.6(KCNE1):c.202_205del (p.Ser68fs) rs1555843953
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp) rs199473362
NM_000238.3(KCNH2):c.2453C>T (p.Ser818Leu) rs121912510
NM_000238.3(KCNH2):c.2510A>G (p.Asp837Gly) rs199473004
NM_000238.3(KCNH2):c.2694_2699dup (p.Asp898_Thr899dup) rs1399804251
NM_000238.3(KCNH2):c.2863C>G (p.Leu955Val) rs199473012
NM_000238.3(KCNH2):c.3152+1G>T rs1057518151
NM_000238.4(KCNH2):c.1129-831_3109dup
NM_000238.4(KCNH2):c.1828A>G (p.Lys610Glu)
NM_000238.4(KCNH2):c.1910AGA[1] (p.Lys638del) rs794728442
NM_000238.4(KCNH2):c.1946-4_1948del
NM_000238.4(KCNH2):c.1968_1969delinsTT (p.Gly657Cys)
NM_000238.4(KCNH2):c.2414T>G (p.Phe805Cys) rs199472999
NM_000238.4(KCNH2):c.3365dup (p.Ala1124fs)
NM_000238.4(KCNH2):c.76+1G>A
NM_000238.4(KCNH2):c.76_76+1del rs1563193513
NM_000238.4(KCNH2):c.910_916+11del rs1563169296
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000719.7(CACNA1C):c.2570C>T (p.Pro857Leu) rs750835733
NM_001010874.5(TECRL):c.587G>A (p.Arg196Gln) rs773204795
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676
NM_001148.6(ANK2):c.2474C>T (p.Thr825Ile) rs786205420
NM_001148.6(ANK2):c.4876A>G (p.Lys1626Glu) rs755287627
NM_001148.6(ANK2):c.6149T>C (p.Ile2050Thr) rs796052197
NM_001148.6(ANK2):c.8123T>C (p.Val2708Ala) rs796052198
NM_001160160.2(SCN5A):c.4900G>A (p.Val1634Ile) rs199473293
NM_001234.5(CAV3):c.169G>A (p.Val57Met) rs116840795
NM_003098.2(SNTA1):c.1498C>T (p.Arg500Cys) rs786205426
NM_005751.4(AKAP9):c.10865G>A (p.Trp3622Ter) rs1563145763
NM_005751.5(AKAP9):c.5108del (p.Lys1703fs)
NM_033337.2(CAV3):c.294C>A (p.Cys98Ter) rs200202503
NM_033337.2(CAV3):c.37A>T (p.Ile13Phe) rs796052171
NM_147185.3(AKAP9):c.2295T>A (p.Asp765Glu) rs796052199
NM_147185.3(AKAP9):c.5341T>A (p.Ser1781Thr) rs796052200
NM_172056.2(KCNH2):c.128A>G (p.Tyr43Cys) rs199472836
NM_172056.2(KCNH2):c.1478A>G (p.Tyr493Cys) rs199472911
NM_172056.2(KCNH2):c.167G>A (p.Arg56Gln) rs199472845
NM_172056.2(KCNH2):c.1691T>A (p.Leu564Gln) rs199472924
NM_172056.2(KCNH2):c.1704G>C (p.Trp568Cys) rs199472926
NM_172056.2(KCNH2):c.172G>A (p.Glu58Lys) rs199473413
NM_172056.2(KCNH2):c.1745G>T (p.Arg582Leu) rs199473426
NM_172056.2(KCNH2):c.1755G>C (p.Trp585Cys) rs199473430
NM_172056.2(KCNH2):c.1781G>A (p.Gly594Asp) rs199472931
NM_172056.2(KCNH2):c.1790A>G (p.Tyr597Cys) rs199472934
NM_172056.2(KCNH2):c.1805T>C (p.Leu602Pro) rs876661348
NM_172056.2(KCNH2):c.1831T>G (p.Tyr611Asp) rs199472942
NM_172056.2(KCNH2):c.1847A>G (p.Tyr616Cys) rs199472946
NM_172056.2(KCNH2):c.1849T>C (p.Phe617Leu) rs796052195
NM_172056.2(KCNH2):c.1853C>T (p.Thr618Ile) rs199472947
NM_172056.2(KCNH2):c.1874T>C (p.Val625Ala) rs199472951
NM_172056.2(KCNH2):c.1886A>C (p.Asn629Thr) rs199472957
NM_172056.2(KCNH2):c.1888G>A (p.Val630Ile) rs199472958
NM_172056.2(KCNH2):c.1946-2A>C rs794728488
NM_172056.2(KCNH2):c.2078T>C (p.Leu693Pro) rs199472983
NM_172056.2(KCNH2):c.209A>G (p.His70Arg) rs199473419
NM_172056.2(KCNH2):c.2145+1G>A rs886039385
NM_172056.2(KCNH2):c.2146-3_2146-1delinsAA rs1554425320
NM_172056.2(KCNH2):c.2162C>T (p.Pro721Leu) rs199472986
NM_172056.2(KCNH2):c.2180_2317del (p.Asp727_Ala772del) rs1554425226
NM_172056.2(KCNH2):c.2255G>A (p.Arg752Gln) rs121912512
NM_172056.2(KCNH2):c.2362G>A (p.Glu788Lys) rs199472997
NM_172056.2(KCNH2):c.2399G>T (p.Gly800Val) rs794728391
NM_172056.2(KCNH2):c.2403G>T (p.Met801Ile) rs1554425149
NM_172056.2(KCNH2):c.307+2T>A rs796052196
NM_172056.2(KCNH2):c.308-2A>G rs1057520598
NM_172056.2(KCNH2):c.472+1G>A rs794728477
NM_172056.2(KCNH2):c.66dup (p.Glu23Ter) rs1554431441
NM_172056.2(KCNH2):c.77-1G>A rs794728406
NM_172056.2(KCNH2):c.916G>C (p.Gly306Arg) rs199472884
NM_172056.2(KCNH2):c.916G>T (p.Gly306Trp) rs199472884
NM_172056.2(KCNH2):c.98A>C (p.Asn33Thr) rs199473487
NM_181798.1(KCNQ1):c.1013-1G>T rs775537394
NM_181798.1(KCNQ1):c.1134-2_1134-1del rs1564886323
NM_181798.1(KCNQ1):c.1171C>G (p.Arg391Gly) rs17215500
NM_181798.1(KCNQ1):c.1190T>G (p.Val397Gly) rs199472790
NM_181798.1(KCNQ1):c.1304+1G>A rs794728531
NM_181798.1(KCNQ1):c.1305-2A>G rs878854350
NM_181798.1(KCNQ1):c.1316C>T (p.Ser439Phe) rs199472804
NM_181798.1(KCNQ1):c.1319T>C (p.Ile440Thr) rs199472805
NM_181798.1(KCNQ1):c.1321G>A (p.Gly441Arg) rs199472807
NM_181798.1(KCNQ1):c.1321G>C (p.Gly441Arg) rs199472807
NM_181798.1(KCNQ1):c.1513dup (p.Arg505fs) rs397508105
NM_181798.1(KCNQ1):c.175G>C (p.Gly59Arg) rs199473398
NM_181798.1(KCNQ1):c.176G>A (p.Gly59Asp) rs794728568
NM_181798.1(KCNQ1):c.179T>C (p.Leu60Pro) rs199473399
NM_181798.1(KCNQ1):c.188G>T (p.Arg63Leu) rs120074178
NM_181798.1(KCNQ1):c.223G>A (p.Asp75Asn) rs199472702
NM_181798.1(KCNQ1):c.224-1G>C rs1564820372
NM_181798.1(KCNQ1):c.231C>G (p.Ile77Met) rs199473455
NM_181798.1(KCNQ1):c.290C>T (p.Thr97Met) rs199472706
NM_181798.1(KCNQ1):c.302+1G>A rs1589957233
NM_181798.1(KCNQ1):c.302+2T>G rs796052166
NM_181798.1(KCNQ1):c.303-2A>C rs1564820729
NM_181798.1(KCNQ1):c.343G>T (p.Asp115Tyr) rs199472712
NM_181798.1(KCNQ1):c.379G>A (p.Val127Met) rs120074179
NM_181798.1(KCNQ1):c.416T>G (p.Leu139Arg) rs199473460
NM_181798.1(KCNQ1):c.449C>G (p.Ser150Trp) rs199472730
NM_181798.1(KCNQ1):c.49A>G (p.Thr17Ala) rs199473451
NM_181798.1(KCNQ1):c.506T>C (p.Phe169Ser) rs199472738
NM_181798.1(KCNQ1):c.524C>T (p.Ala175Val) rs193922365
NM_181798.1(KCNQ1):c.540+1G>T rs397508130
NM_181798.1(KCNQ1):c.541-2A>G rs397508133
NM_181798.1(KCNQ1):c.545C>T (p.Thr182Ile) rs199472743
NM_181798.1(KCNQ1):c.563A>G (p.Tyr188Cys) rs74462309
NM_181798.1(KCNQ1):c.584C>T (p.Thr195Met) rs199472755
NM_181798.1(KCNQ1):c.632C>T (p.Ser211Phe) rs199472758
NM_181798.1(KCNQ1):c.643C>T (p.Leu215Phe) rs199472760
NM_181798.1(KCNQ1):c.651+1G>A rs397508070
NM_181798.1(KCNQ1):c.651G>T (p.Ala217=) rs1800171
NM_181798.1(KCNQ1):c.664T>C (p.Ser222Pro) rs199472764
NM_181798.1(KCNQ1):c.665C>G (p.Ser222Trp) rs199472765
NM_181798.1(KCNQ1):c.668G>T (p.Gly223Val) rs794728524
NM_181798.1(KCNQ1):c.704A>G (p.Lys235Arg) rs12720458
NM_181798.1(KCNQ1):c.730G>C (p.Ala244Pro) rs199473412
NM_181798.1(KCNQ1):c.808C>T (p.Arg270Trp) rs199472776
NM_198056.2(SCN5A):c.1700T>A (p.Leu567Gln) rs199473124
NM_198056.2(SCN5A):c.4501C>G (p.Leu1501Val) rs199473266
NM_207396.3(RNF207):c.1109+1G>A rs552508881

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