ClinVar Miner

Variants in gene KCNQ3 with conflicting interpretations

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
176 184 0 18 18 0 5 37

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 3 4 3 1
likely pathogenic 3 0 0 0 0
uncertain significance 4 0 0 16 3
likely benign 3 0 16 0 15
benign 1 0 3 15 0

All variants with conflicting interpretations #

Total variants: 37
Download table as spreadsheet
HGVS dbSNP
NM_001204824.1(KCNQ3):c.1043A>G (p.Asn348Ser) rs118192252
NM_001204824.1(KCNQ3):c.1575A>G (p.Gln525=) rs587781011
NM_001204824.1(KCNQ3):c.1970G>A (p.Arg657Gln) rs201328910
NM_001204824.1(KCNQ3):c.2131C>T (p.Arg711Trp) rs185628977
NM_001204824.1(KCNQ3):c.594C>A (p.Gly198=) rs143224896
NM_001204824.1(KCNQ3):c.717G>A (p.Val239=) rs750375617
NM_004519.3(KCNQ3):c.1059C>T (p.Ser353=) rs35413925
NM_004519.3(KCNQ3):c.1071C>G (p.Leu357=) rs17575754
NM_004519.3(KCNQ3):c.1216G>A (p.Val406Ile) rs144474368
NM_004519.3(KCNQ3):c.1241A>G (p.Glu414Gly) rs2303995
NM_004519.3(KCNQ3):c.1391T>C (p.Val464Ala) rs143664009
NM_004519.3(KCNQ3):c.1551C>T (p.Ala517=) rs35538317
NM_004519.3(KCNQ3):c.1564G>A (p.Val522Ile) rs143683496
NM_004519.3(KCNQ3):c.1700+3G>A rs115092422
NM_004519.3(KCNQ3):c.1720C>T (p.Pro574Ser) rs74582884
NM_004519.3(KCNQ3):c.1885G>C (p.Val629Leu) rs185511111
NM_004519.3(KCNQ3):c.1917C>T (p.Leu639=) rs78731303
NM_004519.3(KCNQ3):c.1958A>G (p.Gln653Arg) rs554833870
NM_004519.3(KCNQ3):c.1964C>T (p.Thr655Met) rs199942237
NM_004519.3(KCNQ3):c.1994C>T (p.Ser665Leu) rs147173555
NM_004519.3(KCNQ3):c.2079G>A (p.Pro693=) rs145204452
NM_004519.3(KCNQ3):c.2123G>T (p.Ser708Ile) rs977989588
NM_004519.3(KCNQ3):c.225C>G (p.Asp75Glu) rs138254004
NM_004519.3(KCNQ3):c.2263G>A (p.Asp755Asn) rs150821246
NM_004519.3(KCNQ3):c.2306C>A (p.Pro769His) rs114095081
NM_004519.3(KCNQ3):c.2349G>A (p.Thr783=) rs145063831
NM_004519.3(KCNQ3):c.2391C>T (p.His797=) rs763446963
NM_004519.3(KCNQ3):c.2462A>G (p.Asn821Ser) rs118192254
NM_004519.3(KCNQ3):c.56_73del18 (p.Gly19_Gly24del) rs774616642
NM_004519.3(KCNQ3):c.604+10G>T rs541587196
NM_004519.3(KCNQ3):c.660T>C (p.Asn220=) rs41272389
NM_004519.3(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004519.3(KCNQ3):c.689G>A (p.Arg230His) rs749205120
NM_004519.3(KCNQ3):c.732T>C (p.Gly244=) rs41272387
NM_004519.3(KCNQ3):c.834T>C (p.Leu278=) rs769657433
NM_004519.3(KCNQ3):c.948C>T (p.Thr316=) rs142144538
NM_004519.3(KCNQ3):c.988C>T (p.Arg330Cys) rs118192251

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