ClinVar Miner

List of variants studied for Long QT syndrome by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_020433.5(JPH2):c.1186G>A (p.Ala396Thr) rs3810510 0.19815
NM_172201.2(KCNE2):c.22A>G (p.Thr8Ala) rs2234916 0.00387
NM_001148.6(ANK2):c.9286A>G (p.Ser3096Gly) rs144158934 0.00238
NM_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn) rs199473316 0.00063
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) rs36210422 0.00061
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val) rs77331749 0.00056
NM_000335.5(SCN5A):c.5491C>G (p.Gln1831Glu) rs199473320 0.00041
NM_001148.6(ANK2):c.4315G>T (p.Gly1439Cys) rs34591340 0.00023
NM_000218.3(KCNQ1):c.217C>A (p.Pro73Thr) rs199472676 0.00015
NM_001148.6(ANK2):c.9853A>C (p.Ile3285Leu) rs144603824 0.00012
NM_000238.4(KCNH2):c.865G>A (p.Glu289Lys) rs199472880 0.00009
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu) rs199472864 0.00007
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu) rs199473435 0.00004
NM_000238.4(KCNH2):c.2863C>G (p.Leu955Val) rs199473012 0.00004
NM_000719.7(CACNA1C):c.6059G>A (p.Ser2020Asn) rs373503739 0.00003
NM_001010874.5(TECRL):c.587G>A (p.Arg196Gln) rs773204795 0.00003
NM_000890.5(KCNJ5):c.1186G>A (p.Ala396Thr) rs754816201 0.00002
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp) rs199472795 0.00001
NM_000335.5(SCN5A):c.1700T>A (p.Leu567Gln) rs199473124 0.00001
NM_005751.5(AKAP9):c.3055T>G (p.Leu1019Val) rs769686940 0.00001
NM_005751.5(AKAP9):c.9710G>A (p.Arg3237Gln) rs757123477 0.00001
NM_000218.3(KCNQ1):c.1014CTT[1] (p.Phe340del) rs397508068
NM_000218.3(KCNQ1):c.1024C>T (p.Leu342Phe) rs199472760
NM_000218.3(KCNQ1):c.1049G>T (p.Gly350Val) rs794728524
NM_000218.3(KCNQ1):c.1135T>C (p.Trp379Arg) rs199472768
NM_000218.3(KCNQ1):c.1513C>T (p.Gln505Ter) rs397508091
NM_000218.3(KCNQ1):c.1700T>C (p.Ile567Thr) rs199472805
NM_000218.3(KCNQ1):c.1760C>T (p.Thr587Met) rs120074189
NM_000218.3(KCNQ1):c.373T>A (p.Tyr125Asn) rs794728578
NM_000218.3(KCNQ1):c.502G>C (p.Gly168Arg) rs179489
NM_000218.3(KCNQ1):c.584G>C (p.Arg195Pro) rs138362632
NM_000238.4(KCNH2):c.1703G>C (p.Trp568Ser) rs1554425880
NM_000238.4(KCNH2):c.1841C>T (p.Ala614Val) rs199472944
NM_000238.4(KCNH2):c.1874T>C (p.Val625Ala) rs199472951
NM_000238.4(KCNH2):c.206T>A (p.Leu69Gln) rs199473665
NM_000238.4(KCNH2):c.2398+3A>G rs1554425151
NM_000238.4(KCNH2):c.2453C>T (p.Ser818Leu) rs121912510
NM_000238.4(KCNH2):c.3054del (p.Thr1019fs) rs1554424138
NM_000238.4(KCNH2):c.3453_3454del (p.His1151fs) rs1554423346
NM_000238.4(KCNH2):c.66dup (p.Glu23Ter) rs1554431441
NM_000335.5(SCN5A):c.1231G>A (p.Val411Met) rs72549410
NM_005751.5(AKAP9):c.5698C>T (p.Arg1900Ter) rs978219635

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