ClinVar Miner

Variants in gene DOK7 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
189 35 0 14 8 0 1 23

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 0 0 0
uncertain significance 1 0 0 5 3
likely benign 0 0 5 0 12
benign 0 0 3 12 0

All variants with conflicting interpretations #

Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_173660.5(DOK7):c.-30G>T rs146168804
NM_173660.5(DOK7):c.-6C>G rs191800156
NM_173660.5(DOK7):c.1029C>T (p.Gly343=) rs375877997
NM_173660.5(DOK7):c.1091G>A (p.Arg364Gln) rs201304841
NM_173660.5(DOK7):c.1143C>T (p.Pro381=) rs56769879
NM_173660.5(DOK7):c.1171G>A (p.Gly391Arg) rs144158112
NM_173660.5(DOK7):c.1278C>T (p.Pro426=) rs139468087
NM_173660.5(DOK7):c.1317C>T (p.Ser439=) rs16844467
NM_173660.5(DOK7):c.134C>T (p.Ser45Leu) rs62272670
NM_173660.5(DOK7):c.1351C>T (p.Arg451Trp) rs16844470
NM_173660.5(DOK7):c.1378dup (p.Gln460fs) rs606231133
NM_173660.5(DOK7):c.161G>A (p.Arg54His) rs201818140
NM_173660.5(DOK7):c.296C>T (p.Ala99Val) rs138010842
NM_173660.5(DOK7):c.331+9C>T rs370879328
NM_173660.5(DOK7):c.332-4G>A rs199578351
NM_173660.5(DOK7):c.481G>A (p.Gly161Arg)
NM_173660.5(DOK7):c.513C>T (p.Gly171=) rs775583136
NM_173660.5(DOK7):c.589G>A (p.Asp197Asn) rs16844422
NM_173660.5(DOK7):c.781C>T (p.Arg261Cys) rs142821143
NM_173660.5(DOK7):c.782G>A (p.Arg261His) rs16844460
NM_173660.5(DOK7):c.918C>T (p.Ala306=) rs141947707
NM_173660.5(DOK7):c.921C>T (p.Ala307=) rs138148221
NM_173660.5(DOK7):c.967C>T (p.Arg323Cys) rs150728781

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