ClinVar Miner

Variants in gene DGUOK 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 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
87 12 0 5 10 0 2 15

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 2 1 0 0
likely pathogenic 2 0 1 0 0
uncertain significance 1 1 0 9 3
likely benign 0 0 9 0 3
benign 0 0 3 3 0

All variants with conflicting interpretations #

Total variants: 15
Download table as spreadsheet
HGVS dbSNP
NM_080916.3(DGUOK):c.137A>G (p.Asn46Ser) rs763615602
NM_080916.3(DGUOK):c.142+9C>T rs377000908
NM_080916.3(DGUOK):c.155C>T (p.Ser52Phe) rs1204316787
NM_080916.3(DGUOK):c.176C>G (p.Thr59Arg) rs144907403
NM_080916.3(DGUOK):c.256-7C>T rs199531052
NM_080916.3(DGUOK):c.405G>A (p.Lys135=) rs775871024
NM_080916.3(DGUOK):c.444-11C>G rs536746349
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys) rs144181978
NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser) rs147551003
NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg) rs74874677
NM_080916.3(DGUOK):c.630G>A (p.Glu210=) rs115206553
NM_080916.3(DGUOK):c.664C>T (p.Leu222=) rs375686551
NM_080916.3(DGUOK):c.697A>G (p.Lys233Glu) rs371342464
NM_080916.3(DGUOK):c.708-3T>C rs370071744
NM_080916.3(DGUOK):c.758A>G (p.Asn253Ser) rs200169027

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