ClinVar Miner

List of variants reported as likely pathogenic for Long QT syndrome

Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 230
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HGVS dbSNP gnomAD frequency
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 0.00021
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676 0.00014
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776 0.00013
NM_000218.3(KCNQ1):c.671C>T (p.Thr224Met) rs199472706 0.00011
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_000238.4(KCNH2):c.2863C>G (p.Leu955Val) rs199473012 0.00004
NM_000238.4(KCNH2):c.1888G>A (p.Val630Ile) rs199472958 0.00003
NM_001010874.5(TECRL):c.587G>A (p.Arg196Gln) rs773204795 0.00003
NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys) rs17221854 0.00002
NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr) rs120074187 0.00002
NM_000335.5(SCN5A):c.4498C>G (p.Leu1500Val) rs199473266 0.00002
NM_000218.3(KCNQ1):c.1032+1G>A rs397508070 0.00001
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000218.3(KCNQ1):c.1252-1G>C rs1848628661 0.00001
NM_000218.3(KCNQ1):c.1598G>A (p.Arg533Gln) rs574321120 0.00001
NM_000218.3(KCNQ1):c.1765G>A (p.Gly589Ser) rs780676796 0.00001
NM_000218.3(KCNQ1):c.437A>G (p.Glu146Gly) rs914460959 0.00001
NM_000218.3(KCNQ1):c.644T>G (p.Val215Gly) rs368011737 0.00001
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456 0.00001
NM_000218.3(KCNQ1):c.944A>T (p.Tyr315Phe) rs74462309 0.00001
NM_000238.4(KCNH2):c.1283C>T (p.Ser428Leu) rs199472899 0.00001
NM_000238.4(KCNH2):c.1781G>A (p.Gly594Asp) rs199472931 0.00001
NM_000238.4(KCNH2):c.1979C>T (p.Ser660Leu) rs199472979 0.00001
NM_000335.5(SCN5A):c.1700T>A (p.Leu567Gln) rs199473124 0.00001
NM_000890.5(KCNJ5):c.473C>G (p.Thr158Arg) rs145901904 0.00001
NM_033337.3(CAV3):c.169G>A (p.Val57Met) rs116840795 0.00001
NM_207396.3(RNF207):c.1109+1G>A rs552508881 0.00001
NC_000007.13:g.(?_150644396)_(150649961_?)dup
NC_000011.10:g.(?_2587560)_(2587702_?)del
NC_000011.9:g.(?_2549138)_(2610104_?)dup
NC_000011.9:g.(?_2591838)_(2610104_?)dup
NC_000011.9:g.(?_2629548)_(2721238_?)dup
NC_000011.9:g.(?_2790054)_(2799287_?)dup
NG_009091.1(KCNE1):g.[66853A>C;66857T>C] rs281865421
NM_000069.3(CACNA1S):c.5244del (p.Ser1749fs)
NM_000218.3(KCNQ1):c.1013C>T (p.Ser338Phe) rs199472758
NM_000218.3(KCNQ1):c.1015T>C (p.Phe339Leu)
NM_000218.3(KCNQ1):c.1016T>A (p.Phe339Tyr) rs199472759
NM_000218.3(KCNQ1):c.1018T>C (p.Phe340Leu) rs2133750942
NM_000218.3(KCNQ1):c.1022C>G (p.Ala341Gly) rs12720459
NM_000218.3(KCNQ1):c.1024C>T (p.Leu342Phe) rs199472760
NM_000218.3(KCNQ1):c.1032+1_1129-1del
NM_000218.3(KCNQ1):c.1032G>T (p.Ala344=) rs1800171
NM_000218.3(KCNQ1):c.1033-2A>C rs794728523
NM_000218.3(KCNQ1):c.1045T>C (p.Ser349Pro) rs199472764
NM_000218.3(KCNQ1):c.1046C>G (p.Ser349Trp) rs199472765
NM_000218.3(KCNQ1):c.1049G>T (p.Gly350Val) rs794728524
NM_000218.3(KCNQ1):c.1100A>G (p.Gln367Arg) rs2133754743
NM_000218.3(KCNQ1):c.1101G>T (p.Gln367His) rs199473663
NM_000218.3(KCNQ1):c.1111G>C (p.Ala371Pro) rs199473412
NM_000218.3(KCNQ1):c.1112C>A (p.Ala371Glu) rs1848577150
NM_000218.3(KCNQ1):c.1120C>T (p.Leu374Phe)
NM_000218.3(KCNQ1):c.1128+2T>A rs2133754863
NM_000218.3(KCNQ1):c.1166C>T (p.Ser389Phe)
NM_000218.3(KCNQ1):c.1252-2A>C rs771458482
NM_000218.3(KCNQ1):c.1515-2_1515-1del rs1564886323
NM_000218.3(KCNQ1):c.1559T>A (p.Met520Lys)
NM_000218.3(KCNQ1):c.1573G>A (p.Ala525Thr) rs120074188
NM_000218.3(KCNQ1):c.1579A>G (p.Lys527Glu)
NM_000218.3(KCNQ1):c.1685+1G>A rs794728531
NM_000218.3(KCNQ1):c.1685G>T (p.Arg562Met) rs199472802
NM_000218.3(KCNQ1):c.1686-2A>G rs878854350
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe) rs199472804
NM_000218.3(KCNQ1):c.1700T>C (p.Ile567Thr) rs199472805
NM_000218.3(KCNQ1):c.1702G>C (p.Gly568Arg) rs199472807
NM_000218.3(KCNQ1):c.1732+1G>A rs1846719993
NM_000218.3(KCNQ1):c.1760C>G (p.Thr587Arg) rs120074189
NM_000218.3(KCNQ1):c.1763T>C (p.Ile588Thr) rs794728576
NM_000218.3(KCNQ1):c.1781G>C (p.Arg594Pro) rs199472815
NM_000218.3(KCNQ1):c.1831G>T (p.Asp611Tyr) rs147445322
NM_000218.3(KCNQ1):c.332A>C (p.Tyr111Ser)
NM_000218.3(KCNQ1):c.341T>C (p.Leu114Pro) rs199473448
NM_000218.3(KCNQ1):c.349C>A (p.Pro117Thr) rs886037906
NM_000218.3(KCNQ1):c.350C>T (p.Pro117Leu) rs120074191
NM_000218.3(KCNQ1):c.355G>A (p.Gly119Ser)
NM_000218.3(KCNQ1):c.355G>C (p.Gly119Arg) rs1325525794
NM_000218.3(KCNQ1):c.373T>A (p.Tyr125Asn) rs794728578
NM_000218.3(KCNQ1):c.386+1G>T rs2133560406
NM_000218.3(KCNQ1):c.386+2T>G
NM_000218.3(KCNQ1):c.387-5T>A rs794728549
NM_000218.3(KCNQ1):c.467T>C (p.Leu156Pro) rs1589931156
NM_000218.3(KCNQ1):c.503G>A (p.Gly168Glu)
NM_000218.3(KCNQ1):c.521G>T (p.Arg174Leu) rs199472697
NM_000218.3(KCNQ1):c.550T>C (p.Tyr184His) rs199473661
NM_000218.3(KCNQ1):c.556G>C (p.Gly186Arg) rs199473398
NM_000218.3(KCNQ1):c.557G>A (p.Gly186Asp) rs794728568
NM_000218.3(KCNQ1):c.569G>C (p.Arg190Pro) rs120074178
NM_000218.3(KCNQ1):c.603_604+9del rs794728580
NM_000218.3(KCNQ1):c.605-1G>A rs1564820372
NM_000218.3(KCNQ1):c.605-1G>C rs1564820372
NM_000218.3(KCNQ1):c.612C>G (p.Ile204Met) rs199473455
NM_000218.3(KCNQ1):c.674C>G (p.Ser225Trp) rs199473456
NM_000218.3(KCNQ1):c.683+1G>A rs1589957233
NM_000218.3(KCNQ1):c.683+2T>G rs796052166
NM_000218.3(KCNQ1):c.684-2A>C rs1564820729
NM_000218.3(KCNQ1):c.721G>T (p.Val241Phe) rs199956744
NM_000218.3(KCNQ1):c.724G>T (p.Asp242Tyr) rs199472712
NM_000218.3(KCNQ1):c.726C>A (p.Asp242Glu) rs1589957756
NM_000218.3(KCNQ1):c.727C>A (p.Arg243Ser) rs199472713
NM_000218.3(KCNQ1):c.728G>T (p.Arg243Leu)
NM_000218.3(KCNQ1):c.742T>C (p.Trp248Arg) rs199473459
NM_000218.3(KCNQ1):c.752T>A (p.Leu251Gln) rs199472716
NM_000218.3(KCNQ1):c.760G>A (p.Val254Met) rs120074179
NM_000218.3(KCNQ1):c.780+1G>A rs1564820836
NM_000218.3(KCNQ1):c.781G>A (p.Glu261Lys) rs199472722
NM_000218.3(KCNQ1):c.785T>C (p.Leu262Pro) rs1564821090
NM_000218.3(KCNQ1):c.785T>G (p.Leu262Arg) rs1564821090
NM_000218.3(KCNQ1):c.794C>A (p.Thr265Asn) rs199472724
NM_000218.3(KCNQ1):c.797T>G (p.Leu266Arg) rs199473460
NM_000218.3(KCNQ1):c.817C>A (p.Leu273Ile)
NM_000218.3(KCNQ1):c.817C>G (p.Leu273Val)
NM_000218.3(KCNQ1):c.818T>C (p.Leu273Pro) rs199472727
NM_000218.3(KCNQ1):c.818T>G (p.Leu273Arg) rs199472727
NM_000218.3(KCNQ1):c.821TCT[1] (p.Phe275del) rs397508126
NM_000218.3(KCNQ1):c.830C>G (p.Ser277Trp) rs199472730
NM_000218.3(KCNQ1):c.839T>A (p.Val280Glu) rs199473462
NM_000218.3(KCNQ1):c.839T>C (p.Val280Ala)
NM_000218.3(KCNQ1):c.845T>C (p.Leu282Pro) rs199472733
NM_000218.3(KCNQ1):c.847G>C (p.Ala283Pro) rs1060500627
NM_000218.3(KCNQ1):c.848C>G (p.Ala283Gly) rs199473463
NM_000218.3(KCNQ1):c.850G>A (p.Glu284Lys) rs199472734
NM_000218.3(KCNQ1):c.887T>C (p.Phe296Ser) rs199472738
NM_000218.3(KCNQ1):c.908T>C (p.Leu303Pro) rs199472740
NM_000218.3(KCNQ1):c.911G>T (p.Trp304Leu)
NM_000218.3(KCNQ1):c.915G>C (p.Trp305Cys)
NM_000218.3(KCNQ1):c.928G>A (p.Val310Ile) rs199472745
NM_000218.3(KCNQ1):c.941G>A (p.Gly314Asp) rs199472748
NM_000218.3(KCNQ1):c.943T>A (p.Tyr315Asn) rs1554894448
NM_000218.3(KCNQ1):c.943T>C (p.Tyr315His) rs1554894448
NM_000218.3(KCNQ1):c.944A>G (p.Tyr315Cys) rs74462309
NM_000218.3(KCNQ1):c.946G>A (p.Gly316Arg) rs104894255
NM_000218.3(KCNQ1):c.946G>T (p.Gly316Trp) rs104894255
NM_000218.3(KCNQ1):c.947G>C (p.Gly316Ala)
NM_000218.3(KCNQ1):c.950A>C (p.Asp317Ala) rs199472750
NM_000218.3(KCNQ1):c.959C>G (p.Pro320Arg)
NM_000218.3(KCNQ1):c.959C>T (p.Pro320Leu) rs199473470
NM_000218.3(KCNQ1):c.964A>C (p.Thr322Pro) rs199472754
NM_000218.3(KCNQ1):c.965C>G (p.Thr322Arg) rs199472755
NM_000218.3(KCNQ1):c.965C>T (p.Thr322Met) rs199472755
NM_000218.3(KCNQ1):c.973G>T (p.Gly325Trp) rs199472756
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp) rs199473362
NM_000238.4(KCNH2):c.1128+1G>A rs1405113457
NM_000238.4(KCNH2):c.1129-831_3109dup
NM_000238.4(KCNH2):c.1289C>A (p.Ala430Asp) rs2116971776
NM_000238.4(KCNH2):c.1291T>C (p.Phe431Leu) rs1554426244
NM_000238.4(KCNH2):c.1478A>G (p.Tyr493Cys) rs199472911
NM_000238.4(KCNH2):c.1557+1G>C rs886039043
NM_000238.4(KCNH2):c.1558-1G>C rs2116964889
NM_000238.4(KCNH2):c.1624T>C (p.Tyr542His)
NM_000238.4(KCNH2):c.1673C>A (p.Ala558Glu) rs199472919
NM_000238.4(KCNH2):c.167G>A (p.Arg56Gln) rs199472845
NM_000238.4(KCNH2):c.1684C>T (p.His562Tyr) rs794728481
NM_000238.4(KCNH2):c.1685A>C (p.His562Pro) rs199472922
NM_000238.4(KCNH2):c.1691T>A (p.Leu564Gln) rs199472924
NM_000238.4(KCNH2):c.1694C>G (p.Ala565Gly)
NM_000238.4(KCNH2):c.1704G>C (p.Trp568Cys) rs199472926
NM_000238.4(KCNH2):c.1715G>T (p.Gly572Val) rs199473423
NM_000238.4(KCNH2):c.172G>A (p.Glu58Lys) rs199473413
NM_000238.4(KCNH2):c.1745G>T (p.Arg582Leu) rs199473426
NM_000238.4(KCNH2):c.1805T>C (p.Leu602Pro) rs876661348
NM_000238.4(KCNH2):c.1813C>T (p.Pro605Ser) rs199472939
NM_000238.4(KCNH2):c.1828A>G (p.Lys610Glu) rs2116960647
NM_000238.4(KCNH2):c.1831T>G (p.Tyr611Asp) rs199472942
NM_000238.4(KCNH2):c.1837A>G (p.Thr613Ala)
NM_000238.4(KCNH2):c.1847A>G (p.Tyr616Cys) rs199472946
NM_000238.4(KCNH2):c.1849T>C (p.Phe617Leu) rs796052195
NM_000238.4(KCNH2):c.1862G>A (p.Ser621Asn) rs199472948
NM_000238.4(KCNH2):c.1868C>T (p.Thr623Ile) rs199472950
NM_000238.4(KCNH2):c.1874T>C (p.Val625Ala) rs199472951
NM_000238.4(KCNH2):c.1887C>A (p.Asn629Lys) rs41307295
NM_000238.4(KCNH2):c.1905C>A (p.Asn635Lys)
NM_000238.4(KCNH2):c.1910AGA[1] (p.Lys638del) rs794728442
NM_000238.4(KCNH2):c.1934T>G (p.Met645Arg)
NM_000238.4(KCNH2):c.1946-4_1948del rs1801137678
NM_000238.4(KCNH2):c.2145+1G>A rs886039385
NM_000238.4(KCNH2):c.2146-1G>C
NM_000238.4(KCNH2):c.2146-3_2146-1delinsAA rs1554425320
NM_000238.4(KCNH2):c.2162C>T (p.Pro721Leu) rs199472986
NM_000238.4(KCNH2):c.2362G>A (p.Glu788Lys) rs199472997
NM_000238.4(KCNH2):c.2369T>C (p.Leu790Pro) rs1801084514
NM_000238.4(KCNH2):c.2398+1G>T rs794728391
NM_000238.4(KCNH2):c.2398+5G>T rs1554425149
NM_000238.4(KCNH2):c.2398_2398+21del
NM_000238.4(KCNH2):c.2399-108_2488del rs2116940777
NM_000238.4(KCNH2):c.2399-2A>G
NM_000238.4(KCNH2):c.2414T>G (p.Phe805Cys) rs199472999
NM_000238.4(KCNH2):c.2453C>T (p.Ser818Leu) rs121912510
NM_000238.4(KCNH2):c.2592+1G>A rs1554424772
NM_000238.4(KCNH2):c.2593-1G>C
NM_000238.4(KCNH2):c.307+2T>A rs796052196
NM_000238.4(KCNH2):c.308-2A>G rs1057520598
NM_000238.4(KCNH2):c.3152+1G>T rs1057518151
NM_000238.4(KCNH2):c.3153-1G>C
NM_000238.4(KCNH2):c.322T>C (p.Cys108Arg) rs199472859
NM_000238.4(KCNH2):c.3365dup (p.Ala1124fs) rs1800857447
NM_000238.4(KCNH2):c.472+1G>A rs794728477
NM_000238.4(KCNH2):c.473-2A>G rs2117007319
NM_000238.4(KCNH2):c.66dup (p.Glu23Ter) rs1554431441
NM_000238.4(KCNH2):c.76+1G>A rs2117072529
NM_000238.4(KCNH2):c.76+2T>A rs794728419
NM_000238.4(KCNH2):c.76_76+1del rs1563193513
NM_000238.4(KCNH2):c.77-1G>A rs794728406
NM_000238.4(KCNH2):c.910_916+11del rs1563169296
NM_000238.4(KCNH2):c.916G>C (p.Gly306Arg) rs199472884
NM_000238.4(KCNH2):c.916G>T (p.Gly306Trp) rs199472884
NM_000238.4(KCNH2):c.917-2A>G rs2116999316
NM_000238.4(KCNH2):c.98A>C (p.Asn33Thr) rs199473487
NM_000256.3(MYBPC3):c.839_840del (p.Gly280fs)
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000335.5(SCN5A):c.4996G>A (p.Val1666Ile) rs199473293
NM_000719.7(CACNA1C):c.2317_2319del (p.Lys773del) rs786205771
NM_000719.7(CACNA1C):c.2570C>T (p.Pro857Leu) rs750835733
NM_001148.6(ANK2):c.11694+1G>T
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_001232.4(CASQ2):c.97C>T (p.Arg33Ter) rs397507556
NM_001943.5(DSG2):c.2750del (p.Ala917fs)
NM_002471.4(MYH6):c.1962+2T>C
NM_003098.3(SNTA1):c.1498C>T (p.Arg500Cys) rs786205426
NM_005751.5(AKAP9):c.10865G>A (p.Trp3622Ter) rs1563145763
NM_005751.5(AKAP9):c.2295T>A (p.Asp765Glu) rs796052199
NM_005751.5(AKAP9):c.5341T>A (p.Ser1781Thr) rs796052200
NM_013266.4(CTNNA3):c.160del (p.Arg54fs)
NM_033337.3(CAV3):c.213G>A (p.Trp71Ter) rs2124988406
NM_033337.3(CAV3):c.294C>A (p.Cys98Ter) rs200202503
NM_033337.3(CAV3):c.37A>T (p.Ile13Phe) rs796052171
NM_033337.3(CAV3):c.80G>C (p.Arg27Pro) rs116840778

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