ClinVar Miner

List of variants reported as uncertain significance for Long QT syndrome by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 93
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.*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_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_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.*398C>T rs886048170
NM_000218.3(KCNQ1):c.*887_*889del rs886048175
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.*1583A>C rs886057018
NM_000219.6(KCNE1):c.*91del rs748419617
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.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.*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.*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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.