ClinVar Miner

Variants in gene KCNQ1 with conflicting interpretations

See also:
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 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
978 127 0 66 24 1 20 101

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 38 9 1 0 1
likely pathogenic 38 0 12 2 0 0
uncertain significance 9 12 0 18 8 0
likely benign 1 2 18 0 28 0
benign 0 0 8 28 0 0
risk factor 1 0 0 0 0 0

All variants with conflicting interpretations #

Total variants: 101
Download table as spreadsheet
HGVS dbSNP
NM_000218.2(KCNQ1):c.160_168dup (p.Ile54_Pro56dup) rs397515877
NM_000218.2(KCNQ1):c.31G>A (p.Glu11Lys) rs959449103
NM_000218.2(KCNQ1):c.355G>C (p.Gly119Arg) rs1325525794
NM_000218.2(KCNQ1):c.386+14C>T rs370023636
NM_000218.3(KCNQ1):c.-5T>C rs532941548
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
NM_000218.3(KCNQ1):c.1110G>A (p.Ala370=) rs1805118
NM_000218.3(KCNQ1):c.1129-8G>A rs200612600
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457
NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500
NM_000218.3(KCNQ1):c.1590+14T>C rs11024034
NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile) rs750409379
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815
NM_000218.3(KCNQ1):c.1800G>A (p.Thr600=) rs147091980
NM_000218.3(KCNQ1):c.1860C>T (p.His620=) rs139893266
NM_000218.3(KCNQ1):c.1927G>A (p.Gly643Ser) rs1800172
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427
NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=) rs11601907
NM_000218.3(KCNQ1):c.207G>T (p.Ala69=) rs587781009
NM_000218.3(KCNQ1):c.225T>C (p.Val75=) rs367817352
NM_000218.3(KCNQ1):c.328G>A (p.Val110Ile) rs199472677
NM_000218.3(KCNQ1):c.437A>G (p.Glu146Gly) rs914460959
NM_000218.3(KCNQ1):c.447C>T (p.Ala149=) rs146436765
NM_000218.3(KCNQ1):c.459G>A (p.Thr153=) rs148121889
NM_000218.3(KCNQ1):c.477+9C>T rs28730664
NM_000218.3(KCNQ1):c.478-8C>T rs150711844
NM_000218.3(KCNQ1):c.513C>T (p.Tyr171=) rs139042529
NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser) rs199473394
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) rs397508118
NM_000218.3(KCNQ1):c.605-11G>A rs200828849
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456
NM_000218.3(KCNQ1):c.811C>T (p.Leu271=) rs189991547
NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val) rs199472728
NM_181798.1(KCNQ1):c.*1025G>C rs181226788
NM_181798.1(KCNQ1):c.*219G>A rs45477500
NM_181798.1(KCNQ1):c.*264T>C rs45579540
NM_181798.1(KCNQ1):c.*266G>A rs113029000
NM_181798.1(KCNQ1):c.*305A>C rs45570140
NM_181798.1(KCNQ1):c.*411C>T rs45460605
NM_181798.1(KCNQ1):c.*482G>A rs45510192
NM_181798.1(KCNQ1):c.*717T>G rs189162344
NM_181798.1(KCNQ1):c.*742G>A rs114844136
NM_181798.1(KCNQ1):c.*904T>C rs186055804
NM_181798.1(KCNQ1):c.-10G>A rs201090517
NM_181798.1(KCNQ1):c.1175G>A (p.Arg392His) rs199472788
NM_181798.1(KCNQ1):c.1184A>C (p.Tyr395Ser) rs199472789
NM_181798.1(KCNQ1):c.1192G>A (p.Ala398Thr) rs120074188
NM_181798.1(KCNQ1):c.1283G>A (p.Arg428His) rs199472800
NM_181798.1(KCNQ1):c.1288A>G (p.Lys430Glu) rs199472801
NM_181798.1(KCNQ1):c.1305-2A>G rs878854350
NM_181798.1(KCNQ1):c.1319T>C (p.Ile440Thr) rs199472805
NM_181798.1(KCNQ1):c.1321G>A (p.Gly441Arg) rs199472807
NM_181798.1(KCNQ1):c.1366C>T (p.Arg456Cys) rs17221854
NM_181798.1(KCNQ1):c.1368C>T (p.Arg456=) rs200670744
NM_181798.1(KCNQ1):c.1381A>T (p.Ile461Phe) rs794728536
NM_181798.1(KCNQ1):c.1387G>A (p.Ala463Thr) rs199472813
NM_181798.1(KCNQ1):c.140G>A (p.Arg47His) rs199472697
NM_181798.1(KCNQ1):c.1418C>T (p.Thr473Met) rs34516117
NM_181798.1(KCNQ1):c.143_153dup (p.Gly52fs) rs763462603
NM_181798.1(KCNQ1):c.1450G>A (p.Asp484Asn) rs147445322
NM_181798.1(KCNQ1):c.145T>C (p.Trp49Arg) rs1554892900
NM_181798.1(KCNQ1):c.1494C>T (p.Pro498=) rs112113213
NM_181798.1(KCNQ1):c.1512dup (p.Arg505fs) rs397508104
NM_181798.1(KCNQ1):c.151G>A (p.Ala51Thr) rs120074177
NM_181798.1(KCNQ1):c.171C>T (p.Tyr57=) rs780231722
NM_181798.1(KCNQ1):c.199G>C (p.Ala67Pro) rs199472699
NM_181798.1(KCNQ1):c.203G>A (p.Arg68Gln) rs138362632
NM_181798.1(KCNQ1):c.290C>T (p.Thr97Met) rs199472706
NM_181798.1(KCNQ1):c.302+5G>A rs397508122
NM_181798.1(KCNQ1):c.310C>T (p.Arg104Cys) rs199473457
NM_181798.1(KCNQ1):c.343G>A (p.Asp115Asn) rs199472712
NM_181798.1(KCNQ1):c.378C>T (p.Ser126=) rs752457145
NM_181798.1(KCNQ1):c.379G>A (p.Val127Met) rs120074179
NM_181798.1(KCNQ1):c.394C>T (p.Arg132Cys) rs199472719
NM_181798.1(KCNQ1):c.40G>A (p.Val14Met) rs199472687
NM_181798.1(KCNQ1):c.416T>C (p.Leu139Pro) rs199473460
NM_181798.1(KCNQ1):c.449C>T (p.Ser150Leu) rs199472730
NM_181798.1(KCNQ1):c.496C>T (p.Arg166Cys) rs199472737
NM_181798.1(KCNQ1):c.498C>A (p.Arg166=) rs181106858
NM_181798.1(KCNQ1):c.517G>A (p.Ala173Thr) rs120074187
NM_181798.1(KCNQ1):c.524C>T (p.Ala175Val) rs193922365
NM_181798.1(KCNQ1):c.533G>C (p.Trp178Ser) rs120074186
NM_181798.1(KCNQ1):c.538_540+9del rs794728557
NM_181798.1(KCNQ1):c.563A>G (p.Tyr188Cys) rs74462309
NM_181798.1(KCNQ1):c.577C>T (p.Pro193Ser) rs199472753
NM_181798.1(KCNQ1):c.584C>T (p.Thr195Met) rs199472755
NM_181798.1(KCNQ1):c.592G>A (p.Gly198Arg) rs199472756
NM_181798.1(KCNQ1):c.635T>C (p.Phe212Ser) rs199472759
NM_181798.1(KCNQ1):c.643C>T (p.Leu215Phe) rs199472760
NM_181798.1(KCNQ1):c.650C>A (p.Ala217Glu) rs199472763
NM_181798.1(KCNQ1):c.694C>T (p.Gln232Ter) rs397508075
NM_181798.1(KCNQ1):c.704A>G (p.Lys235Arg) rs12720458
NM_181798.1(KCNQ1):c.740T>A (p.Leu247His) rs199472767
NM_181798.1(KCNQ1):c.754T>C (p.Trp252Arg) rs199472768
NM_181798.1(KCNQ1):c.795G>A (p.Trp265Ter) rs794728572
NM_181798.1(KCNQ1):c.808C>T (p.Arg270Trp) rs199472776
NM_181798.1(KCNQ1):c.884del (p.Lys295fs) rs397508083
NM_181798.1(KCNQ1):c.951G>A (p.Thr317=) rs144985256
NM_181798.1(KCNQ1):c.962C>T (p.Pro321Leu) rs12720449
NM_181798.1(KCNQ1):c.973C>T (p.Arg325Trp) rs140452381

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