ClinVar Miner

Variants with conflicting interpretations studied for Long QT syndrome

Coded as:
Minimum review status of the submission for Long QT syndrome: Collection method of the submission for Long QT syndrome:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
10222 690 0 70 86 0 25 174

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Long QT syndrome pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 33 5 1 0
likely pathogenic 30 0 16 2 1
uncertain significance 5 17 0 77 13
likely benign 3 2 77 0 37
benign 0 1 13 37 0

Condition to condition summary #

Total conditions: 5
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
Long QT syndrome 10228 688 0 67 86 0 23 170
Long QT syndrome 4 0 1 0 0 0 0 2 2
Congenital long QT syndrome; Jervell and Lange-Nielsen syndrome 0 1 0 1 0 0 0 1
Congenital long QT syndrome; Jervell and Lange-Nielsen syndrome; Rare genetic deafness 0 0 0 1 0 0 0 1
Long QT syndrome 1; Jervell and Lange-Nielsen syndrome 1 0 5 0 1 0 0 1 1

All variants with conflicting interpretations #

Total variants: 174
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1638G>A (p.Ser546=) rs1057128 0.16286
NM_000218.3(KCNQ1):c.1590+14T>C rs11024034 0.07860
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_001148.6(ANK2):c.7831T>C (p.Tyr2611His) rs35338364 0.00539
NM_001148.6(ANK2):c.4744C>T (p.Arg1582Trp) rs35249198 0.00403
NM_172201.2(KCNE2):c.22A>G (p.Thr8Ala) rs2234916 0.00387
NM_001148.6(ANK2):c.2970A>C (p.Arg990=) rs35956627 0.00336
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 0.00317
NM_001148.6(ANK2):c.9286A>G (p.Ser3096Gly) rs144158934 0.00238
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly) rs56157422 0.00217
NM_000218.3(KCNQ1):c.478-8C>T rs150711844 0.00150
NM_000238.4(KCNH2):c.3111C>T (p.Asp1037=) rs200799870 0.00134
NM_000218.3(KCNQ1):c.447C>T (p.Ala149=) rs146436765 0.00126
NM_000238.4(KCNH2):c.3133C>T (p.Leu1045Phe) rs199473025 0.00098
NM_001148.6(ANK2):c.11716C>T (p.Arg3906Trp) rs121912706 0.00094
NM_005751.5(AKAP9):c.10664A>T (p.Asp3555Val) rs139046510 0.00089
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141 0.00085
NM_000238.4(KCNH2):c.51C>G (p.Thr17=) rs144338227 0.00083
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn) rs121912705 0.00077
NM_001148.6(ANK2):c.6206G>A (p.Arg2069His) rs149645600 0.00065
NM_000238.4(KCNH2):c.982C>T (p.Arg328Cys) rs199473505 0.00063
NM_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn) rs199473316 0.00063
NM_000218.3(KCNQ1):c.1799C>T (p.Thr600Met) rs34516117 0.00062
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp) rs139544114 0.00062
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684 0.00061
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) rs36210422 0.00061
NM_005751.5(AKAP9):c.10118C>A (p.Ser3373Tyr) rs140470576 0.00061
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val) rs77331749 0.00056
NM_005751.5(AKAP9):c.10459G>A (p.Glu3487Lys) rs61757664 0.00055
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457 0.00053
NM_000218.3(KCNQ1):c.1431C>T (p.Pro477=) rs137887424 0.00050
NM_001148.6(ANK2):c.6228G>T (p.Lys2076Asn) rs144848998 0.00050
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly) rs201492706 0.00048
NM_000218.3(KCNQ1):c.811C>T (p.Leu271=) rs189991547 0.00041
NM_000218.3(KCNQ1):c.1800G>A (p.Thr600=) rs147091980 0.00037
NM_000719.7(CACNA1C):c.5444G>C (p.Arg1815Thr) rs374425919 0.00033
NM_000238.4(KCNH2):c.2454G>A (p.Ser818=) rs72549418 0.00029
NM_000219.6(KCNE1):c.374C>T (p.Thr125Met) rs142511345 0.00027
NM_000238.4(KCNH2):c.2371C>T (p.Arg791Trp) rs138498207 0.00026
NM_000218.3(KCNQ1):c.1861G>A (p.Gly621Ser) rs199472820 0.00024
NM_005751.5(AKAP9):c.5895G>A (p.Glu1965=) rs138928104 0.00024
NM_001148.6(ANK2):c.4315G>T (p.Gly1439Cys) rs34591340 0.00023
NM_000238.4(KCNH2):c.2948C>T (p.Thr983Ile) rs149955375 0.00022
NM_000238.4(KCNH2):c.441C>T (p.His147=) rs143479939 0.00021
NM_000218.3(KCNQ1):c.1352G>A (p.Arg451Gln) rs199472781 0.00020
NM_000238.4(KCNH2):c.1923C>T (p.Ser641=) rs142249065 0.00019
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235 0.00018
NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp) rs140452381 0.00016
NM_000238.4(KCNH2):c.431A>T (p.Asp144Val) rs146284716 0.00016
NM_000219.6(KCNE1):c.325G>A (p.Val109Ile) rs77442996 0.00014
NM_005751.5(AKAP9):c.11714T>C (p.Met3905Thr) rs77447750 0.00014
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776 0.00013
NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val) rs199472728 0.00013
NM_001148.6(ANK2):c.11119G>A (p.Asp3707Asn) rs199549660 0.00013
NM_000218.3(KCNQ1):c.671C>T (p.Thr224Met) rs199472706 0.00011
NM_000238.4(KCNH2):c.1641G>A (p.Ala547=) rs149902084 0.00011
NM_000238.4(KCNH2):c.2681G>A (p.Arg894His) rs199473668 0.00010
NM_000238.4(KCNH2):c.1635C>T (p.Tyr545=) rs200692436 0.00009
NM_000218.3(KCNQ1):c.1831G>A (p.Asp611Asn) rs147445322 0.00007
NM_000219.6(KCNE1):c.29C>T (p.Thr10Met) rs144917638 0.00007
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu) rs199472864 0.00007
NM_000238.4(KCNH2):c.2127C>T (p.Asn709=) rs768572372 0.00006
NM_000238.4(KCNH2):c.3090G>A (p.Pro1030=) rs778604642 0.00006
NM_000238.4(KCNH2):c.3112G>A (p.Val1038Met) rs199473544 0.00006
NM_000238.4(KCNH2):c.3153-13C>T rs372337645 0.00006
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_000238.4(KCNH2):c.3436A>T (p.Thr1146Ser) rs778879572 0.00005
NM_000218.3(KCNQ1):c.1345G>A (p.Glu449Lys) rs372583676 0.00004
NM_000218.3(KCNQ1):c.603C>T (p.Ile201=) rs146190510 0.00004
NM_000238.4(KCNH2):c.2665T>G (p.Leu889Val) rs765427343 0.00004
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_000238.4(KCNH2):c.3164G>A (p.Arg1055Gln) rs41307270 0.00004
NM_005751.5(AKAP9):c.6946-12A>G rs375657019 0.00004
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500 0.00003
NM_000218.3(KCNQ1):c.1936G>A (p.Gly646Ser) rs763478809 0.00003
NM_000218.3(KCNQ1):c.675G>A (p.Ser225=) rs148566141 0.00003
NM_000218.3(KCNQ1):c.683+3G>A rs1025802726 0.00003
NM_000219.6(KCNE1):c.107G>A (p.Arg36His) rs199473351 0.00003
NM_000238.4(KCNH2):c.1887C>T (p.Asn629=) rs41307295 0.00003
NM_000238.4(KCNH2):c.1888G>A (p.Val630Ile) rs199472958 0.00003
NM_000719.7(CACNA1C):c.6059G>A (p.Ser2020Asn) rs373503739 0.00003
NM_000218.3(KCNQ1):c.1128+5G>A rs76735093 0.00002
NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr) rs120074187 0.00002
NM_000238.4(KCNH2):c.2331C>T (p.Thr777=) rs41307292 0.00002
NM_000238.4(KCNH2):c.917-8C>G rs41313086 0.00002
NM_001148.6(ANK2):c.11652A>G (p.Glu3884=) rs752145926 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.1198C>G (p.Pro400Ala) rs1489132337 0.00001
NM_000218.3(KCNQ1):c.1336G>A (p.Asp446Asn) rs149089817 0.00001
NM_000218.3(KCNQ1):c.1348G>A (p.Glu450Lys) rs148266527 0.00001
NM_000218.3(KCNQ1):c.1598G>A (p.Arg533Gln) rs574321120 0.00001
NM_000218.3(KCNQ1):c.1664G>A (p.Arg555His) rs199472800 0.00001
NM_000218.3(KCNQ1):c.437A>G (p.Glu146Gly) rs914460959 0.00001
NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser) rs199473394 0.00001
NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn) rs199472702 0.00001
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456 0.00001
NM_000218.3(KCNQ1):c.683+5G>A rs397508122 0.00001
NM_000218.3(KCNQ1):c.905C>T (p.Ala302Val) rs193922365 0.00001
NM_000238.4(KCNH2):c.1557+6G>A rs746174154 0.00001
NM_000238.4(KCNH2):c.2133C>T (p.Ile711=) rs562349092 0.00001
NM_000238.4(KCNH2):c.2255G>A (p.Arg752Gln) rs121912512 0.00001
NM_000238.4(KCNH2):c.990T>C (p.Ile330=) rs748711437 0.00001
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.1089C>T (p.His363=) rs1589967006
NM_000218.3(KCNQ1):c.1195G>T (p.Ala399Ser) rs571899254
NM_000218.3(KCNQ1):c.1251+13C>T rs201364493
NM_000218.3(KCNQ1):c.1252-3dup rs12720450
NM_000218.3(KCNQ1):c.1338C>G (p.Asp446Glu) rs199472780
NM_000218.3(KCNQ1):c.1343C>A (p.Pro448Gln) rs12720449
NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000218.3(KCNQ1):c.1343C>T (p.Pro448Leu) rs12720449
NM_000218.3(KCNQ1):c.1394-6C>A rs759714698
NM_000218.3(KCNQ1):c.1611T>C (p.Asp537=) rs1590081349
NM_000218.3(KCNQ1):c.1663C>A (p.Arg555Ser) rs120074185
NM_000218.3(KCNQ1):c.1685G>T (p.Arg562Met) rs199472802
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.1733-10T>A
NM_000218.3(KCNQ1):c.1795-14C>G
NM_000218.3(KCNQ1):c.1831G>T (p.Asp611Tyr) rs147445322
NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=) rs112113213
NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs) rs397508103
NM_000218.3(KCNQ1):c.1893del (p.Arg632fs) rs397508104
NM_000218.3(KCNQ1):c.1962G>C (p.Leu654=)
NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=) rs11601907
NM_000218.3(KCNQ1):c.403del (p.Val135fs) rs794728565
NM_000218.3(KCNQ1):c.488del (p.Leu163fs) rs397508112
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000218.3(KCNQ1):c.564G>A (p.Trp188Ter) rs530612385
NM_000218.3(KCNQ1):c.675G>C (p.Ser225=) rs148566141
NM_000218.3(KCNQ1):c.683+4C>T rs554698776
NM_000218.3(KCNQ1):c.724G>T (p.Asp242Tyr) rs199472712
NM_000218.3(KCNQ1):c.760G>A (p.Val254Met) rs120074179
NM_000218.3(KCNQ1):c.821TCT[1] (p.Phe275del) rs397508126
NM_000218.3(KCNQ1):c.887T>C (p.Phe296Ser) rs199472738
NM_000218.3(KCNQ1):c.899C>A (p.Ala300Glu) rs1001293702
NM_000218.3(KCNQ1):c.905C>A (p.Ala302Glu) rs193922365
NM_000218.3(KCNQ1):c.921+1G>T rs397508130
NM_000218.3(KCNQ1):c.944A>G (p.Tyr315Cys) rs74462309
NM_000218.3(KCNQ1):c.965C>T (p.Thr322Met) rs199472755
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp) rs199473362
NM_000238.4(KCNH2):c.1128G>A (p.Gln376=) rs770047651
NM_000238.4(KCNH2):c.1320G>T (p.Pro440=) rs144926928
NM_000238.4(KCNH2):c.1468G>A (p.Ala490Thr) rs28928905
NM_000238.4(KCNH2):c.1500C>A (p.Ile500=) rs147126965
NM_000238.4(KCNH2):c.1591C>T (p.Arg531Trp) rs199472915
NM_000238.4(KCNH2):c.1638C>T (p.Gly546=) rs759245832
NM_000238.4(KCNH2):c.1849T>C (p.Phe617Leu) rs796052195
NM_000238.4(KCNH2):c.2013C>T (p.Ala671=) rs2116955668
NM_000238.4(KCNH2):c.225G>A (p.Gln75=)
NM_000238.4(KCNH2):c.2351G>A (p.Arg784Gln)
NM_000238.4(KCNH2):c.2362G>A (p.Glu788Lys) rs199472997
NM_000238.4(KCNH2):c.2398+5G>T rs1554425149
NM_000238.4(KCNH2):c.2453C>T (p.Ser818Leu) rs121912510
NM_000238.4(KCNH2):c.2510A>G (p.Asp837Gly) rs199473004
NM_000238.4(KCNH2):c.2607G>T (p.Pro869=) rs199828796
NM_000238.4(KCNH2):c.2692+8G>A rs200032281
NM_000238.4(KCNH2):c.2796C>T (p.Ser932=)
NM_000238.4(KCNH2):c.3051C>T (p.Ala1017=) rs75488587
NM_000238.4(KCNH2):c.3331-13GT[2] rs41313749
NM_000238.4(KCNH2):c.396G>T (p.Val132=)
NM_000238.4(KCNH2):c.66dup (p.Glu23Ter) rs1554431441
NM_000238.4(KCNH2):c.77-5C>A rs72549419
NM_000238.4(KCNH2):c.77-5C>T rs72549419
NM_000238.4(KCNH2):c.77-7C>A
NM_000238.4(KCNH2):c.927C>T (p.His309=) rs775056804
NM_000238.4(KCNH2):c.98A>C (p.Asn33Thr) rs199473487
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del) rs575583988
NM_000719.7(CACNA1C):c.2570C>T (p.Pro857Leu) rs750835733
NM_003098.3(SNTA1):c.1498C>T (p.Arg500Cys) rs786205426
NM_005751.5(AKAP9):c.8345C>T (p.Thr2782Ile) rs543634397

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