ClinVar Miner

Variants in gene DOK7 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
979 65 0 26 12 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 2 0 0 0
likely pathogenic 2 0 1 0 0
uncertain significance 0 1 0 11 2
likely benign 0 0 11 0 24
benign 0 0 2 24 0

All variants with conflicting interpretations #

Total variants: 38
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_173660.5(DOK7):c.-30G>T rs146168804 0.11265
NM_173660.5(DOK7):c.652+50G>A rs2006802 0.06939
NM_173660.5(DOK7):c.589G>A (p.Asp197Asn) rs16844422 0.02362
NM_173660.5(DOK7):c.-6C>G rs191800156 0.01785
NM_173660.5(DOK7):c.1351C>T (p.Arg451Trp) rs16844470 0.01433
NM_173660.5(DOK7):c.1317C>T (p.Ser439=) rs16844467 0.01424
NM_173660.5(DOK7):c.1143C>T (p.Pro381=) rs56769879 0.01415
NM_173660.5(DOK7):c.782G>A (p.Arg261His) rs16844460 0.01070
NM_001301071.2(DOK7):c.1620C>T (p.Pro540=) rs143778632 0.00976
NM_173660.5(DOK7):c.332-4G>A rs199578351 0.00790
NM_173660.5(DOK7):c.1204C>T (p.Arg402Trp) rs149905649 0.00516
NM_173660.5(DOK7):c.134C>T (p.Ser45Leu) rs62272670 0.00470
NM_001301071.2(DOK7):c.1599G>A (p.Ser533=) rs115742102 0.00363
NM_173660.5(DOK7):c.1295G>A (p.Arg432Lys) rs145419117 0.00243
NM_173660.5(DOK7):c.904G>C (p.Ala302Pro) rs79063654 0.00237
NM_173660.5(DOK7):c.178G>A (p.Glu60Lys) rs199980106 0.00227
NM_173660.5(DOK7):c.919G>A (p.Ala307Thr) rs150415034 0.00210
NM_173660.5(DOK7):c.812G>C (p.Ser271Thr) rs144592743 0.00202
NM_173660.5(DOK7):c.1278C>T (p.Pro426=) rs139468087 0.00181
NM_173660.5(DOK7):c.831C>T (p.Ala277=) rs150549589 0.00113
NM_173660.5(DOK7):c.331+9C>T rs370879328 0.00098
NM_173660.5(DOK7):c.296C>T (p.Ala99Val) rs138010842 0.00046
NM_173660.5(DOK7):c.1029C>T (p.Gly343=) rs375877997 0.00043
NM_173660.5(DOK7):c.957C>G (p.Pro319=) rs777573281 0.00016
NM_173660.5(DOK7):c.1133C>T (p.Ala378Val) rs371846002 0.00009
NM_173660.5(DOK7):c.193C>T (p.Leu65=) rs546630800 0.00001
NM_173660.5(DOK7):c.514G>A (p.Gly172Arg) rs768892432 0.00001
NM_001301071.2(DOK7):c.1499G>A (p.Gly500Glu) rs577616504
NM_173660.5(DOK7):c.100+36del rs566267525
NM_173660.5(DOK7):c.1263del (p.Ser422fs) rs606231129
NM_173660.5(DOK7):c.1305C>A (p.Gly435=) rs201894731
NM_173660.5(DOK7):c.1313C>G (p.Thr438Arg) rs376805794
NM_173660.5(DOK7):c.1378dup (p.Gln460fs) rs606231133
NM_173660.5(DOK7):c.161G>A (p.Arg54His) rs201818140
NM_173660.5(DOK7):c.332-49C>T rs114112298
NM_173660.5(DOK7):c.54+29G>T rs767030857
NM_173660.5(DOK7):c.918C>T (p.Ala306=) rs141947707
NM_173660.5(DOK7):c.967C>T (p.Arg323Cys) rs150728781

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