ClinVar Miner

Variants in gene DOCK8 with conflicting interpretations

See also:
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
2290 157 0 20 17 0 2 36

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 1 2 0 0
likely pathogenic 1 0 1 0 0
uncertain significance 2 1 0 15 5
likely benign 0 0 15 0 19
benign 0 0 5 19 0

All variants with conflicting interpretations #

Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_203447.4(DOCK8):c.5908G>C (p.Ala1970Pro) rs34908836 0.07052
NM_203447.4(DOCK8):c.3230G>A (p.Ser1077Asn) rs34627722 0.05757
NM_203447.4(DOCK8):c.709G>A (p.Glu237Lys) rs11789099 0.02275
NM_203447.4(DOCK8):c.3840+3A>G rs16938572 0.00865
NM_203447.4(DOCK8):c.3573C>T (p.Ser1191=) rs13285348 0.00471
NM_203447.4(DOCK8):c.3701-17C>T rs376111035 0.00409
NM_203447.4(DOCK8):c.1017G>A (p.Pro339=) rs35746964 0.00395
NM_203447.4(DOCK8):c.4019A>G (p.Tyr1340Cys) rs116920018 0.00276
NM_203447.4(DOCK8):c.2310G>A (p.Glu770=) rs116175117 0.00217
NM_203447.4(DOCK8):c.1582C>A (p.Leu528Met) rs146250176 0.00213
NM_203447.4(DOCK8):c.528+7C>A rs114833839 0.00207
NM_203447.4(DOCK8):c.380G>A (p.Arg127His) rs150742426 0.00196
NM_203447.4(DOCK8):c.4024-4C>T rs111306749 0.00196
NM_203447.4(DOCK8):c.3606T>C (p.Cys1202=) rs143919622 0.00175
NM_203447.4(DOCK8):c.3460C>T (p.Arg1154Cys) rs34390308 0.00170
NM_203447.4(DOCK8):c.452G>A (p.Arg151Gln) rs149918318 0.00136
NM_203447.4(DOCK8):c.5010G>A (p.Ala1670=) rs142208336 0.00128
NM_203447.4(DOCK8):c.3988C>G (p.Leu1330Val) rs148081681 0.00076
NM_203447.4(DOCK8):c.3263C>T (p.Thr1088Met) rs149065013 0.00067
NM_203447.4(DOCK8):c.3023G>A (p.Arg1008Gln) rs145844320 0.00064
NM_203447.4(DOCK8):c.494C>T (p.Ser165Leu) rs146490788 0.00061
NM_203447.4(DOCK8):c.5962-8C>T rs749575443 0.00061
NM_203447.4(DOCK8):c.3312G>C (p.Glu1104Asp) rs138810908 0.00054
NM_203447.4(DOCK8):c.3058A>G (p.Ile1020Val) rs151094543 0.00046
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_203447.4(DOCK8):c.828-7A>G rs200243583 0.00030
NM_203447.4(DOCK8):c.2779A>G (p.Ile927Val) rs759239515 0.00006
NM_203447.4(DOCK8):c.4346C>T (p.Ser1449Leu) rs370123223 0.00006
NM_203447.4(DOCK8):c.1656A>G (p.Val552=) rs150595667 0.00003
NM_203447.4(DOCK8):c.3079G>A (p.Val1027Ile) rs199782622 0.00001
GRCh37/hg19 9p24.3(chr9:209753-246900)x1
NM_203447.4(DOCK8):c.2017A>T (p.Ile673Phe) rs372858877
NM_203447.4(DOCK8):c.2440+13_2440+22del rs769837178
NM_203447.4(DOCK8):c.3234+15del rs375864618
NM_203447.4(DOCK8):c.3234+15dup rs375864618
NM_203447.4(DOCK8):c.404+16del rs727505303

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