ClinVar Miner

Variants in gene combination KCNQ1, KCNQ1OT1 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 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
652 43 0 34 4 0 1 38

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
pathogenic 0 1 1 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 1 0 0 4 0
likely benign 0 0 4 0 33
benign 0 0 0 33 0

All variants with conflicting interpretations #

Total variants: 38
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1455C>T (p.Phe485=) rs17215465 0.01545
NM_000218.3(KCNQ1):c.1394-14C>T rs28730758 0.01027
NM_000218.3(KCNQ1):c.1394-27C>T rs28730757 0.00360
NM_000218.3(KCNQ1):c.1514+34253G>A rs191910825 0.00357
NM_000218.3(KCNQ1):c.1394-13234C>T rs117669349 0.00348
NM_000218.3(KCNQ1):c.1394-1572T>A rs1047841136 0.00315
NM_000218.3(KCNQ1):c.1514+23744C>T rs144675024 0.00269
NM_000218.3(KCNQ1):c.1394-20753C>T rs144855882 0.00238
NM_000218.3(KCNQ1):c.1514+10580T>C rs537598032 0.00213
NM_000218.3(KCNQ1):c.1394-5806C>A rs139721699 0.00205
NM_000218.3(KCNQ1):c.1514+29457A>G rs190917477 0.00205
NM_000218.3(KCNQ1):c.1394-13971G>A rs531016515 0.00169
NM_000218.3(KCNQ1):c.1514+11010C>T rs184731749 0.00161
NM_000218.3(KCNQ1):c.1514+8939G>A rs534559378 0.00144
NM_000218.3(KCNQ1):c.1393+20618A>C rs558913241 0.00133
NM_000218.3(KCNQ1):c.1514+23871G>C rs535649270 0.00131
NM_000218.3(KCNQ1):c.1514+28055G>A rs139764915 0.00119
NM_000218.3(KCNQ1):c.1514+4764G>A rs548596924 0.00117
NM_000218.3(KCNQ1):c.1514+973G>C rs564822980 0.00115
NM_000218.3(KCNQ1):c.1394-11748C>A rs186695371 0.00099
NM_000218.3(KCNQ1):c.1514+3197C>G rs565014702 0.00080
NM_000218.3(KCNQ1):c.1394-33873A>G rs188992605 0.00064
NM_000218.3(KCNQ1):c.1431C>T (p.Pro477=) rs137887424 0.00045
NM_000218.3(KCNQ1):c.1459G>A (p.Glu487Lys) rs1205552952 0.00015
NM_000218.3(KCNQ1):c.1476A>G (p.Glu492=) rs370676650 0.00009
NM_000218.3(KCNQ1):c.1514+7G>T rs372593469 0.00006
NM_000218.3(KCNQ1):c.1394-1G>T rs775537394 0.00004
NM_000218.3(KCNQ1):c.1456G>A (p.Ala486Thr) rs753256800 0.00004
NM_000218.3(KCNQ1):c.1394-13_1394-12del rs550005589
NM_000218.3(KCNQ1):c.1394-1573del rs769229810
NM_000218.3(KCNQ1):c.1394-34447C>A rs574299058
NM_000218.3(KCNQ1):c.1394-3571A>G rs563376632
NM_000218.3(KCNQ1):c.1394-41G>T rs74046836
NM_000218.3(KCNQ1):c.1394-6817T>C rs551300254
NM_000218.3(KCNQ1):c.1394-6C>A rs759714698
NM_000218.3(KCNQ1):c.1394-8C>T rs371488379
NM_000218.3(KCNQ1):c.1486_1487del (p.Leu496fs) rs397508090
NM_000218.3(KCNQ1):c.1514+3307del rs568306051

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