ClinVar Miner

Variants with conflicting interpretations studied for Acyl-CoA oxidase deficiency

Coded as:
Minimum review status of the submission for Acyl-CoA oxidase deficiency: Collection method of the submission for Acyl-CoA oxidase deficiency:
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
687 32 0 7 21 0 2 29

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
Acyl-CoA oxidase deficiency pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 2 0 0 0
likely pathogenic 2 0 2 0 0
uncertain significance 0 2 0 17 5
likely benign 0 0 17 0 5
benign 0 0 5 5 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
Acyl-CoA oxidase deficiency 687 32 0 7 21 0 2 29

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004035.7(ACOX1):c.921G>A (p.Arg307=) rs79677613 0.00869
NM_004035.7(ACOX1):c.80C>T (p.Pro27Leu) rs145082938 0.00672
NM_004035.7(ACOX1):c.954A>G (p.Glu318=) rs16968343 0.00404
NM_004035.7(ACOX1):c.804G>A (p.Pro268=) rs114057990 0.00205
NM_004035.7(ACOX1):c.497A>G (p.Asn166Ser) rs145056278 0.00167
NM_004035.7(ACOX1):c.1368C>T (p.Asn456=) rs151255626 0.00147
NM_004035.7(ACOX1):c.1478+13T>C rs199908120 0.00059
NM_004035.7(ACOX1):c.1344G>A (p.Val448=) rs753969664 0.00045
NM_004035.7(ACOX1):c.1418C>T (p.Thr473Ile) rs200608977 0.00031
NM_004035.7(ACOX1):c.574C>A (p.Gln192Lys) rs200833797 0.00019
NM_004035.7(ACOX1):c.1695T>C (p.Tyr565=) rs774049893 0.00014
NM_004035.7(ACOX1):c.1584+11G>A rs185329691 0.00012
NM_004035.7(ACOX1):c.667G>A (p.Val223Ile) rs143260706 0.00007
NM_004035.7(ACOX1):c.405T>C (p.Thr135=) rs142474717 0.00005
NM_004035.7(ACOX1):c.912C>T (p.Ser304=) rs144826451 0.00005
NM_004035.7(ACOX1):c.1068C>T (p.Asn356=) rs374533122 0.00003
NM_004035.7(ACOX1):c.1944A>G (p.Glu648=) rs374691393 0.00003
NM_004035.7(ACOX1):c.825C>T (p.Tyr275=) rs542159010 0.00003
NM_004035.7(ACOX1):c.510G>A (p.Val170=) rs752375436 0.00002
NM_004035.7(ACOX1):c.176G>C (p.Arg59Pro) rs777937235 0.00001
NM_004035.7(ACOX1):c.1821T>C (p.Val607=) rs762221413 0.00001
NM_004035.7(ACOX1):c.408T>C (p.Tyr136=) rs779313800 0.00001
NM_004035.7(ACOX1):c.538+1G>A rs1466419887 0.00001
NM_004035.7(ACOX1):c.659-4G>A rs746563980 0.00001
NM_004035.7(ACOX1):c.679G>A (p.Gly227Ser) rs1002618350 0.00001
NM_004035.7(ACOX1):c.1479-12A>G rs2065755060
NM_004035.7(ACOX1):c.1789_1792del (p.Leu596_Thr597insTer)
NM_004035.7(ACOX1):c.1866C>A (p.Gly622=) rs886053456
NM_004035.7(ACOX1):c.270-8C>G rs751892262

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