ClinVar Miner

List of variants studied for Long QT syndrome by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 118
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1393+28111T>G rs114030398 0.56819
NM_174934.4(SCN4B):c.*924_*934dup rs1370870059 0.30565
NM_000335.5(SCN5A):c.*1453dup rs397763929 0.23236
NM_000219.5(KCNE1):c.-577C>T rs11702354 0.23004
NM_000218.3(KCNQ1):c.1393+31361T>A rs200391321 0.16051
NM_000218.3(KCNQ1):c.1393+22646C>G rs146407692 0.00925
NM_000218.3(KCNQ1):c.1393+21526C>T rs72847701 0.00923
NM_000218.3(KCNQ1):c.1393+21538C>T rs72850203 0.00923
NM_000219.6(KCNE1):c.*1226_*1229del rs551512090 0.00693
NM_001148.6(ANK2):c.7831T>C (p.Tyr2611His) rs35338364 0.00539
NM_000218.3(KCNQ1):c.1514+4974G>A rs188083723 0.00530
NM_000335.5(SCN5A):c.3360G>A (p.Ala1120=) rs9858585 0.00488
NM_000335.5(SCN5A):c.1569T>A (p.Arg523=) rs41313693 0.00351
NM_000335.5(SCN5A):c.1068T>C (p.Asp356=) rs41313703 0.00349
NM_001148.6(ANK2):c.2970A>C (p.Arg990=) rs35956627 0.00336
NM_174934.4(SCN4B):c.*988_*989insA rs5795119 0.00318
NM_000219.5(KCNE1):c.-628A>G rs76210431 0.00186
NM_000218.3(KCNQ1):c.478-8C>T rs150711844 0.00150
NM_000218.3(KCNQ1):c.*241G>A rs142023323 0.00048
NM_001148.6(ANK2):c.*108G>A rs180795690 0.00048
NM_174934.4(SCN4B):c.607G>A (p.Val203Met) rs150312046 0.00031
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln) rs145229963 0.00025
NM_000335.5(SCN5A):c.*1673C>T rs886058443 0.00024
NM_005751.5(AKAP9):c.5895G>A (p.Glu1965=) rs138928104 0.00024
NM_000335.5(SCN5A):c.*1969C>T rs190416544 0.00020
NM_000335.5(SCN5A):c.3228+6C>G rs368048551 0.00019
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776 0.00013
NM_000238.4(KCNH2):c.1641G>A (p.Ala547=) rs149902084 0.00011
NM_000335.5(SCN5A):c.1598G>A (p.Arg533His) rs146848219 0.00009
NM_003098.2(SNTA1):c.-200C>T rs879769686 0.00009
NM_000219.5(KCNE1):c.-605G>A rs780282543 0.00008
NM_000218.3(KCNQ1):c.*897G>T rs561861522 0.00006
NM_000238.4(KCNH2):c.3153-13C>T rs372337645 0.00006
NM_000218.3(KCNQ1):c.1749C>T (p.Arg583=) rs200670744 0.00005
NM_000238.4(KCNH2):c.3436A>T (p.Thr1146Ser) rs778879572 0.00005
NM_000218.3(KCNQ1):c.*554T>G rs886048172 0.00004
NM_000219.5(KCNE1):c.-561C>T rs886057028 0.00004
NM_000238.4(KCNH2):c.3164G>A (p.Arg1055Gln) rs41307270 0.00004
NM_000335.5(SCN5A):c.2259C>T (p.Asn753=) rs878911306 0.00004
NM_005751.5(AKAP9):c.6946-12A>G rs375657019 0.00004
NM_000218.3(KCNQ1):c.1514+3G>A rs374767819 0.00003
NM_000219.6(KCNE1):c.*457G>A rs886057024 0.00003
NM_000335.5(SCN5A):c.*945C>A rs886058450 0.00003
NM_000335.5(SCN5A):c.21T>A (p.Pro7=) rs587781157 0.00003
NM_001148.6(ANK2):c.*647T>C rs886059019 0.00003
NM_172201.2(KCNE2):c.-121C>T rs188625398 0.00003
NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=) rs561922849 0.00002
NM_001148.6(ANK2):c.*1741C>T rs556069947 0.00002
NM_001148.6(ANK2):c.11652A>G (p.Glu3884=) rs752145926 0.00002
NM_005751.5(AKAP9):c.8524A>G (p.Met2842Val) rs886062477 0.00002
NM_000218.3(KCNQ1):c.1973C>A (p.Thr658Asn) rs377661455 0.00001
NM_000238.4(KCNH2):c.3416C>T (p.Pro1139Leu) rs886062086 0.00001
NM_000335.5(SCN5A):c.*1731G>C rs569249327 0.00001
NM_000335.5(SCN5A):c.2988C>T (p.Ala996=) rs781529391 0.00001
NM_000335.5(SCN5A):c.687T>C (p.Thr229=) rs770390440 0.00001
NM_003098.2(SNTA1):c.-251G>A rs886056630 0.00001
NM_174934.4(SCN4B):c.*1343C>T rs886047723 0.00001
NM_174934.4(SCN4B):c.*434T>C rs886047729 0.00001
NM_000218.3(KCNQ1):c.*160C>A rs886048167
NM_000218.3(KCNQ1):c.*26C>A rs886048166
NM_000218.3(KCNQ1):c.*292C>A rs886048169
NM_000218.3(KCNQ1):c.*377del rs762386874
NM_000218.3(KCNQ1):c.*398C>T rs886048170
NM_000218.3(KCNQ1):c.*887_*889del rs886048175
NM_000218.3(KCNQ1):c.*889AAT[1] rs546360517
NM_000218.3(KCNQ1):c.1251+13C>T rs201364493
NM_000218.3(KCNQ1):c.1979C>A (p.Pro660His) rs886048165
NM_000218.3(KCNQ1):c.29C>A (p.Ala10Asp) rs886048161
NM_000218.3(KCNQ1):c.650C>T (p.Ser217Phe) rs886048163
NM_000218.3(KCNQ1):c.66C>T (p.Gly22=) rs886048162
NM_000218.3(KCNQ1):c.781-6G>T rs886048164
NM_000219.6(KCNE1):c.*1547dup rs11373310
NM_000219.6(KCNE1):c.*1583A>C rs886057018
NM_000219.6(KCNE1):c.*91del rs748419617
NM_000219.6(KCNE1):c.*946del rs142762112
NM_000238.4(KCNH2):c.*195C>A rs886062085
NM_000238.4(KCNH2):c.*367C>A rs886062084
NM_000238.4(KCNH2):c.-272C>T rs886062092
NM_000238.4(KCNH2):c.1612A>G (p.Lys538Glu) rs886062088
NM_000238.4(KCNH2):c.3058C>T (p.Pro1020Ser) rs41307274
NM_000238.4(KCNH2):c.3331-13GT[2] rs41313749
NM_000238.4(KCNH2):c.853G>T (p.Ala285Ser) rs864622366
NM_000238.4(KCNH2):c.868G>T (p.Ala290Ser) rs532891158
NM_000335.5(SCN5A):c.*1443C>A rs886058445
NM_000335.5(SCN5A):c.*1602G>T rs886058444
NM_000335.5(SCN5A):c.*1691G>T rs886058442
NM_000335.5(SCN5A):c.*1701G>T rs886058441
NM_000335.5(SCN5A):c.*1705C>T rs886058440
NM_000335.5(SCN5A):c.*1744C>G rs886058439
NM_000335.5(SCN5A):c.*1836A>T rs886058438
NM_000335.5(SCN5A):c.*1943C>A rs569552176
NM_000335.5(SCN5A):c.*2139_*2145AGG[2]GGAGAAGAGAGTAGGAAAAAGGAGGG[1] rs45592631
NM_000335.5(SCN5A):c.*2149G>A rs114517792
NM_000335.5(SCN5A):c.*296G>A rs886058456
NM_000335.5(SCN5A):c.*516G>T rs886058454
NM_000335.5(SCN5A):c.*634C>A rs886058453
NM_000335.5(SCN5A):c.*6G>T rs776980213
NM_000335.5(SCN5A):c.*725C>A rs886058451
NM_000335.5(SCN5A):c.*73C>A rs886058458
NM_000335.5(SCN5A):c.*980C>A rs886058449
NM_000335.5(SCN5A):c.1870C>A (p.Leu624Ile) rs886058463
NM_000335.5(SCN5A):c.2815C>T (p.Leu939Phe) rs886058462
NM_000335.5(SCN5A):c.4264G>A (p.Asp1422Asn) rs746291609
NM_000335.5(SCN5A):c.5942G>T (p.Arg1981Ile) rs774432823
NM_000335.5(SCN5A):c.6030C>A (p.Asp2010Glu) rs886058459
NM_001148.6(ANK2):c.*1166dup rs531092201
NM_001148.6(ANK2):c.*535del rs886059018
NM_005751.5(AKAP9):c.-214CGG[6] rs371245265
NM_005751.5(AKAP9):c.4534GAA[1] (p.Glu1513del) rs764066037
NM_005751.5(AKAP9):c.5627_5630del (p.Thr1876fs) rs755378911
NM_005751.5(AKAP9):c.931-8del rs532128328
NM_033337.3(CAV3):c.*725T>C rs886058918
NM_174934.4(SCN4B):c.*1993del rs886047721
NM_174934.4(SCN4B):c.*3607_*3611del rs569520041
NM_174934.4(SCN4B):c.*3632del rs886047715
NM_174934.4(SCN4B):c.*989dup rs5795117
NM_174934.4(SCN4B):c.*990del rs747111771
NM_174934.4(SCN4B):c.362T>C (p.Leu121Pro) rs886047731

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