ClinVar Miner

Variants with conflicting interpretations studied for DOCK6-related disorder

Minimum review status of the submission for DOCK6-related disorder: Collection method of the submission for DOCK6-related disorder:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
22 44 0 25 11 0 0 35

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.

All conditions
DOCK6-related disorder pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 0 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 0 0 0 1 0
likely benign 0 0 8 0 17
benign 0 0 2 6 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition 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
not provided 0 44 0 25 11 0 0 35

All variants with conflicting interpretations #

Total variants: 35
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020812.4(DOCK6):c.5700G>A (p.Thr1900=) rs142270471 0.00651
NM_020812.4(DOCK6):c.434G>A (p.Arg145Gln) rs140883567 0.00446
NM_020812.4(DOCK6):c.4205C>T (p.Thr1402Met) rs147554257 0.00411
NM_020812.4(DOCK6):c.2476C>T (p.Arg826Cys) rs35881692 0.00292
NM_020812.4(DOCK6):c.3752G>A (p.Arg1251Gln) rs200390354 0.00245
NM_020812.4(DOCK6):c.5976T>A (p.Ile1992=) rs200181665 0.00196
NM_020812.4(DOCK6):c.4479C>T (p.Phe1493=) rs146048288 0.00173
NM_020812.4(DOCK6):c.4862T>C (p.Val1621Ala) rs201738818 0.00173
NM_020812.4(DOCK6):c.1993G>A (p.Gly665Arg) rs17001264 0.00145
NM_020812.4(DOCK6):c.133G>A (p.Val45Ile) rs183060698 0.00141
NM_020812.4(DOCK6):c.810C>T (p.Phe270=) rs372611420 0.00140
NM_020812.4(DOCK6):c.2104G>A (p.Gly702Ser) rs199838752 0.00131
NM_020812.4(DOCK6):c.1608C>T (p.Pro536=) rs114902682 0.00096
NM_020812.4(DOCK6):c.5582G>A (p.Arg1861His) rs115035890 0.00093
NM_020812.4(DOCK6):c.2594G>A (p.Arg865His) rs199922090 0.00090
NM_020812.4(DOCK6):c.2883C>T (p.Pro961=) rs370648857 0.00073
NM_020812.4(DOCK6):c.729C>G (p.Ala243=) rs35674395 0.00061
NM_020812.4(DOCK6):c.2346G>A (p.Lys782=) rs373464992 0.00056
NM_020812.4(DOCK6):c.5088+8C>G rs147181483 0.00042
NM_020812.4(DOCK6):c.1643+5G>A rs117014874 0.00037
NM_020812.4(DOCK6):c.4204-3C>T rs370375778 0.00036
NM_020812.4(DOCK6):c.5832+5G>A rs181867999 0.00019
NM_020812.4(DOCK6):c.5939+2T>C rs201387914 0.00019
NM_020812.4(DOCK6):c.172G>T (p.Asp58Tyr) rs763117803 0.00011
NM_020812.4(DOCK6):c.2506G>A (p.Val836Ile) rs200935357 0.00011
NM_020812.4(DOCK6):c.2103C>T (p.Asp701=) rs372208548 0.00010
NM_020812.4(DOCK6):c.4446C>T (p.Ser1482=) rs529459880 0.00009
NM_020812.4(DOCK6):c.12C>G (p.Ser4=) rs560244093 0.00005
NM_020812.4(DOCK6):c.3562C>T (p.Gln1188Ter) rs372751467 0.00002
NM_020812.4(DOCK6):c.4350G>C (p.Leu1450=) rs763073235 0.00002
NM_020812.4(DOCK6):c.2140G>A (p.Val714Met) rs549146148
NM_020812.4(DOCK6):c.2772C>G (p.Arg924=) rs201482446
NM_020812.4(DOCK6):c.3163G>A (p.Val1055Met) rs202209921
NM_020812.4(DOCK6):c.5832+4C>T rs572880984
NM_020812.4(DOCK6):c.906G>C (p.Ser302=) rs79202547

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