ClinVar Miner

List of variants reported as likely pathogenic for Long QT syndrome

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Total variants: 90
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HGVS dbSNP
NC_000007.13:g.(?_150644396)_(150649961_?)dup
NC_000011.9:g.(?_2591858)_(2594216_?)del
NC_000011.9:g.(?_2608790)_(2608932_?)del
NM_000218.2(KCNQ1):c.1013C>T (p.Ser338Phe) rs199472758
NM_000218.2(KCNQ1):c.1032+1G>A rs397508070
NM_000218.2(KCNQ1):c.1032G>T (p.Ala344=)
NM_000218.2(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458
NM_000218.2(KCNQ1):c.1140G>T (p.Arg380Ser) rs199472771
NM_000218.2(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776
NM_000218.2(KCNQ1):c.1394-1G>T rs775537394
NM_000218.2(KCNQ1):c.1515-2_1515-1delAG rs1564886323
NM_000218.2(KCNQ1):c.1571T>G (p.Val524Gly) rs199472790
NM_000218.2(KCNQ1):c.1637C>T (p.Ser546Leu) rs199473480
NM_000218.2(KCNQ1):c.1685+1G>A rs794728531
NM_000218.2(KCNQ1):c.1686-2A>G rs878854350
NM_000218.2(KCNQ1):c.1697C>T (p.Ser566Phe) rs199472804
NM_000218.2(KCNQ1):c.1702G>C (p.Gly568Arg)
NM_000218.2(KCNQ1):c.1894dup (p.Arg632fs) rs397508105
NM_000218.2(KCNQ1):c.430A>G (p.Thr144Ala) rs199473451
NM_000218.2(KCNQ1):c.557G>A (p.Gly186Asp) rs794728568
NM_000218.2(KCNQ1):c.569G>T (p.Arg190Leu) rs120074178
NM_000218.2(KCNQ1):c.605-1G>C rs1564820372
NM_000218.2(KCNQ1):c.612C>G (p.Ile204Met) rs199473455
NM_000218.2(KCNQ1):c.671C>T (p.Thr224Met) rs199472706
NM_000218.2(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456
NM_000218.2(KCNQ1):c.683+1G>A
NM_000218.2(KCNQ1):c.683+2T>G rs796052166
NM_000218.2(KCNQ1):c.684-2A>C rs1564820729
NM_000218.2(KCNQ1):c.724G>A (p.Asp242Asn) rs199472712
NM_000218.2(KCNQ1):c.724G>T (p.Asp242Tyr) rs199472712
NM_000218.2(KCNQ1):c.760G>A (p.Val254Met) rs120074179
NM_000218.2(KCNQ1):c.830C>G (p.Ser277Trp) rs199472730
NM_000218.2(KCNQ1):c.922-2A>G
NM_000218.2(KCNQ1):c.944A>G (p.Tyr315Cys) rs74462309
NM_000218.2(KCNQ1):c.965C>T (p.Thr322Met) rs199472755
NM_000219.6(KCNE1):c.12dup (p.Asn5Ter) rs1131691762
NM_000219.6(KCNE1):c.202_205del (p.Ser68fs) rs1555843953
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000238.3(KCNH2):c.1129-1G>A rs794728478
NM_000238.3(KCNH2):c.1129-832_3108dup
NM_000238.3(KCNH2):c.128A>G (p.Tyr43Cys) rs199472836
NM_000238.3(KCNH2):c.167G>A (p.Arg56Gln) rs199472845
NM_000238.3(KCNH2):c.1691T>A (p.Leu564Gln)
NM_000238.3(KCNH2):c.1704G>C (p.Trp568Cys) rs199472926
NM_000238.3(KCNH2):c.172G>A (p.Glu58Lys) rs199473413
NM_000238.3(KCNH2):c.1755G>C (p.Trp585Cys)
NM_000238.3(KCNH2):c.1790A>G (p.Tyr597Cys) rs199472934
NM_000238.3(KCNH2):c.1831T>G (p.Tyr611Asp) rs199472942
NM_000238.3(KCNH2):c.1847A>G (p.Tyr616Cys) rs199472946
NM_000238.3(KCNH2):c.1849T>C (p.Phe617Leu) rs796052195
NM_000238.3(KCNH2):c.1886A>C (p.Asn629Thr) rs199472957
NM_000238.3(KCNH2):c.1888G>A (p.Val630Ile) rs199472958
NM_000238.3(KCNH2):c.1910_1912AGA[1] (p.Lys638del) rs794728442
NM_000238.3(KCNH2):c.2078T>C (p.Leu693Pro) rs199472983
NM_000238.3(KCNH2):c.209A>G (p.His70Arg) rs199473419
NM_000238.3(KCNH2):c.2145+1G>A rs886039385
NM_000238.3(KCNH2):c.2146-3_2146-1delCAGinsAA rs1554425320
NM_000238.3(KCNH2):c.2162C>T (p.Pro721Leu) rs199472986
NM_000238.3(KCNH2):c.2180_2317del (p.Asp727_Ala772del) rs1554425226
NM_000238.3(KCNH2):c.2255G>A (p.Arg752Gln) rs121912512
NM_000238.3(KCNH2):c.2362G>A (p.Glu788Lys) rs199472997
NM_000238.3(KCNH2):c.2414T>G (p.Phe805Cys) rs199472999
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.307+2T>A rs796052196
NM_000238.3(KCNH2):c.308-2A>G rs1057520598
NM_000238.3(KCNH2):c.76_76+1delAG rs1563193513
NM_000238.3(KCNH2):c.910_916+11delAGCACCGGTGAGGGCGCC rs1563169296
NM_000238.3(KCNH2):c.916G>C (p.Gly306Arg) rs199472884
NM_000238.3(KCNH2):c.916G>T (p.Gly306Trp) rs199472884
NM_000238.3(KCNH2):c.98A>C (p.Asn33Thr) rs199473487
NM_000335.4(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603
NM_000335.4(SCN5A):c.4844_4846TCT[1] (p.Phe1616del) rs749697698
NM_000335.4(SCN5A):c.4996G>A (p.Val1666Ile) rs199473293
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_003098.2(SNTA1):c.1498C>T (p.Arg500Cys) rs786205426
NM_005751.4(AKAP9):c.10865G>A (p.Trp3622Ter) rs1563145763
NM_005751.4(AKAP9):c.2295T>A (p.Asp765Glu) rs796052199
NM_005751.4(AKAP9):c.5341T>A (p.Ser1781Thr) rs796052200
NM_033337.2(CAV3):c.169G>A (p.Val57Met) rs116840795
NM_033337.2(CAV3):c.277G>A (p.Ala93Thr) rs28936686
NM_033337.2(CAV3):c.37A>T (p.Ile13Phe) rs796052171
NM_172056.2(KCNH2):c.2399G>T (p.Gly800Val) rs794728391

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