ClinVar Miner

Variants in gene KCNQ1 with conflicting interpretations

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Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
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 Variants with at least 2 submissions 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 kind of conflict
494 222 0 79 25 1 36 126

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.

pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 0 49 16 2 1 1
likely pathogenic 49 0 24 5 1 1
uncertain significance 16 24 0 20 9 0
likely benign 2 5 20 0 30 0
benign 1 1 9 30 0 0
risk factor 1 1 0 0 0 0

All variants with conflicting interpretations #

Total variants: 126
Download table as spreadsheet
HGVS dbSNP
NM_000218.2(KCNQ1):c.-5T>C rs532941548
NM_000218.2(KCNQ1):c.1016T>C (p.Phe339Ser) rs199472759
NM_000218.2(KCNQ1):c.1024C>T (p.Leu342Phe) rs199472760
NM_000218.2(KCNQ1):c.1029_1031dupAGC (p.Ala344_Gly345insAla) rs794728559
NM_000218.2(KCNQ1):c.1031C>A (p.Ala344Glu) rs199472763
NM_000218.2(KCNQ1):c.1075C>T (p.Gln359Ter) rs397508075
NM_000218.2(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458
NM_000218.2(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
NM_000218.2(KCNQ1):c.1110G>A (p.Ala370=) rs1805118
NM_000218.2(KCNQ1):c.1121T>A (p.Leu374His) rs199472767
NM_000218.2(KCNQ1):c.1128+4C>T rs201590918
NM_000218.2(KCNQ1):c.1129-8G>A rs200612600
NM_000218.2(KCNQ1):c.1135T>C (p.Trp379Arg) rs199472768
NM_000218.2(KCNQ1):c.1178A>T (p.Lys393Met) rs199472775
NM_000218.2(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457
NM_000218.2(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776
NM_000218.2(KCNQ1):c.1222C>G (p.Pro408Ala) rs28730756
NM_000218.2(KCNQ1):c.1251+13C>T rs201364493
NM_000218.2(KCNQ1):c.1257delG (p.Lys422Serfs) rs1554895166
NM_000218.2(KCNQ1):c.1265delA (p.Lys422Serfs) rs397508083
NM_000218.2(KCNQ1):c.1332G>A (p.Thr444=) rs144985256
NM_000218.2(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000218.2(KCNQ1):c.1343C>T (p.Pro448Leu) rs12720449
NM_000218.2(KCNQ1):c.1552C>G (p.Arg518Gly) rs17215500
NM_000218.2(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500
NM_000218.2(KCNQ1):c.1559T>G (p.Met520Arg) rs199473479
NM_000218.2(KCNQ1):c.1565A>C (p.Tyr522Ser) rs199472789
NM_000218.2(KCNQ1):c.1573G>A (p.Ala525Thr) rs120074188
NM_000218.2(KCNQ1):c.1590+14T>C rs11024034
NM_000218.2(KCNQ1):c.1597C>T (p.Arg533Trp) rs199472793
NM_000218.2(KCNQ1):c.160_168dupATCGCGCCC (p.Pro56_Gly57insIleAlaPro) rs397515877
NM_000218.2(KCNQ1):c.1616G>A (p.Arg539Gln) rs199472794
NM_000218.2(KCNQ1):c.1637C>T (p.Ser546Leu) rs199473480
NM_000218.2(KCNQ1):c.1664G>A (p.Arg555His) rs199472800
NM_000218.2(KCNQ1):c.1669A>G (p.Lys557Glu) rs199472801
NM_000218.2(KCNQ1):c.1685+1G>A rs794728531
NM_000218.2(KCNQ1):c.1686-2A>G rs878854350
NM_000218.2(KCNQ1):c.1686delG (p.Arg562Serfs) rs794728562
NM_000218.2(KCNQ1):c.1697C>A (p.Ser566Tyr) rs199472804
NM_000218.2(KCNQ1):c.1702G>A (p.Gly568Arg) rs199472807
NM_000218.2(KCNQ1):c.1726G>A (p.Val576Ile) rs750409379
NM_000218.2(KCNQ1):c.1747C>T (p.Arg583Cys) rs17221854
NM_000218.2(KCNQ1):c.1749C>T (p.Arg583=) rs200670744
NM_000218.2(KCNQ1):c.1762A>T (p.Ile588Phe) rs794728536
NM_000218.2(KCNQ1):c.1768G>A (p.Ala590Thr) rs199472813
NM_000218.2(KCNQ1):c.1780C>T (p.Arg594Ter) rs794728537
NM_000218.2(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815
NM_000218.2(KCNQ1):c.1781G>C (p.Arg594Pro) rs199472815
NM_000218.2(KCNQ1):c.1794+11G>A rs186188610
NM_000218.2(KCNQ1):c.1799C>T (p.Thr600Met) rs34516117
NM_000218.2(KCNQ1):c.1800G>A (p.Thr600=) rs147091980
NM_000218.2(KCNQ1):c.1831G>A (p.Asp611Asn) rs147445322
NM_000218.2(KCNQ1):c.1860C>T (p.His620=) rs139893266
NM_000218.2(KCNQ1):c.1875C>T (p.Pro625=) rs112113213
NM_000218.2(KCNQ1):c.1876G>A (p.Gly626Ser) rs199472821
NM_000218.2(KCNQ1):c.1893dupC (p.Arg632Glnfs) rs397508104
NM_000218.2(KCNQ1):c.1902C>T (p.Gly634=) rs774046442
NM_000218.2(KCNQ1):c.1926C>T (p.Cys642=) rs12720454
NM_000218.2(KCNQ1):c.1927G>A (p.Gly643Ser) rs1800172
NM_000218.2(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427
NM_000218.2(KCNQ1):c.1986C>G (p.Tyr662Ter) rs11601907
NM_000218.2(KCNQ1):c.19C>T (p.Pro7Ser) rs199473443
NM_000218.2(KCNQ1):c.207G>T (p.Ala69=) rs587781009
NM_000218.2(KCNQ1):c.211_219delGCCGCGCCC (p.Ala71_Pro73del) rs397508107
NM_000218.2(KCNQ1):c.225T>C (p.Val75=) rs367817352
NM_000218.2(KCNQ1):c.31G>A (p.Glu11Lys) rs959449103
NM_000218.2(KCNQ1):c.328G>A (p.Val110Ile) rs199472677
NM_000218.2(KCNQ1):c.355G>C (p.Gly119Arg)
NM_000218.2(KCNQ1):c.377A>T (p.His126Leu) rs794728579
NM_000218.2(KCNQ1):c.386+14C>T rs370023636
NM_000218.2(KCNQ1):c.386+16216G>A rs201090517
NM_000218.2(KCNQ1):c.387-7C>T rs201682200
NM_000218.2(KCNQ1):c.421G>A (p.Val141Met) rs199472687
NM_000218.2(KCNQ1):c.425delT (p.Leu142Argfs) rs794728566
NM_000218.2(KCNQ1):c.430A>G (p.Thr144Ala) rs199473451
NM_000218.2(KCNQ1):c.435C>T (p.Ile145=) rs1800170
NM_000218.2(KCNQ1):c.447C>T (p.Ala149=) rs146436765
NM_000218.2(KCNQ1):c.459G>A (p.Thr153=) rs148121889
NM_000218.2(KCNQ1):c.468_469delCT (p.Phe157Leufs) rs1064795333
NM_000218.2(KCNQ1):c.477+9C>T rs28730664
NM_000218.2(KCNQ1):c.478-8C>T rs150711844
NM_000218.2(KCNQ1):c.488delT (p.Leu163Argfs) rs397508112
NM_000218.2(KCNQ1):c.513C>T (p.Tyr171=) rs139042529
NM_000218.2(KCNQ1):c.521G>A (p.Arg174His) rs199472697
NM_000218.2(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000218.2(KCNQ1):c.535G>A (p.Gly179Ser) rs199473394
NM_000218.2(KCNQ1):c.560T>C (p.Leu187Pro) rs199473399
NM_000218.2(KCNQ1):c.569G>T (p.Arg190Leu) rs120074178
NM_000218.2(KCNQ1):c.573_577delGCGCT (p.Arg192Cysfs) rs397508118
NM_000218.2(KCNQ1):c.575G>A (p.Arg192His) rs199472698
NM_000218.2(KCNQ1):c.580G>C (p.Ala194Pro) rs199472699
NM_000218.2(KCNQ1):c.584G>A (p.Arg195Gln) rs138362632
NM_000218.2(KCNQ1):c.585delG (p.Lys196Serfs) rs397508120
NM_000218.2(KCNQ1):c.605-11G>A rs200828849
NM_000218.2(KCNQ1):c.642C>T (p.Cys214=) rs775479779
NM_000218.2(KCNQ1):c.648C>A (p.Gly216=) rs146350010
NM_000218.2(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456
NM_000218.2(KCNQ1):c.691C>T (p.Arg231Cys) rs199473457
NM_000218.2(KCNQ1):c.720C>T (p.His240=) rs28730754
NM_000218.2(KCNQ1):c.724G>A (p.Asp242Asn) rs199472712
NM_000218.2(KCNQ1):c.742T>C (p.Trp248Arg) rs199473459
NM_000218.2(KCNQ1):c.757T>C (p.Ser253Pro) rs764781840
NM_000218.2(KCNQ1):c.759C>T (p.Ser253=) rs752457145
NM_000218.2(KCNQ1):c.760G>A (p.Val254Met) rs120074179
NM_000218.2(KCNQ1):c.775C>T (p.Arg259Cys) rs199472719
NM_000218.2(KCNQ1):c.776G>A (p.Arg259His) rs199472720
NM_000218.2(KCNQ1):c.781-14_781-13delGT rs727503103
NM_000218.2(KCNQ1):c.797T>C (p.Leu266Pro) rs199473460
NM_000218.2(KCNQ1):c.811C>T (p.Leu271=) rs189991547
NM_000218.2(KCNQ1):c.820A>G (p.Ile274Val) rs199472728
NM_000218.2(KCNQ1):c.830C>G (p.Ser277Trp) rs199472730
NM_000218.2(KCNQ1):c.830C>T (p.Ser277Leu) rs199472730
NM_000218.2(KCNQ1):c.850G>A (p.Glu284Lys) rs199472734
NM_000218.2(KCNQ1):c.877C>T (p.Arg293Cys) rs199472737
NM_000218.2(KCNQ1):c.879C>A (p.Arg293=) rs181106858
NM_000218.2(KCNQ1):c.898G>A (p.Ala300Thr) rs120074187
NM_000218.2(KCNQ1):c.905C>A (p.Ala302Glu) rs193922365
NM_000218.2(KCNQ1):c.905C>T (p.Ala302Val) rs193922365
NM_000218.2(KCNQ1):c.914G>C (p.Trp305Ser) rs120074186
NM_000218.2(KCNQ1):c.919_921+9delGTGGTAAGTCGG rs794728557
NM_000218.2(KCNQ1):c.921+7C>T rs370506451
NM_000218.2(KCNQ1):c.944A>G (p.Tyr315Cys) rs74462309
NM_000218.2(KCNQ1):c.958C>T (p.Pro320Ser) rs199472753
NM_000218.2(KCNQ1):c.965C>T (p.Thr322Met) rs199472755
NM_000218.2(KCNQ1):c.972C>T (p.Val324=) rs554518844
NM_000218.2(KCNQ1):c.973G>A (p.Gly325Arg) rs199472756

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