ClinVar Miner

Variants in gene ACOX1 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
253 14 0 5 13 0 1 18

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 uncertain significance likely benign benign
pathogenic 0 1 0 0
uncertain significance 1 0 11 3
likely benign 0 11 0 5
benign 0 3 5 0

All variants with conflicting interpretations #

Total variants: 18
Download table as spreadsheet
HGVS dbSNP
NM_004035.7(ACOX1):c.1068C>T (p.Asn356=) rs374533122
NM_004035.7(ACOX1):c.1344G>A (p.Val448=) rs753969664
NM_004035.7(ACOX1):c.1368C>T (p.Asn456=) rs151255626
NM_004035.7(ACOX1):c.1418C>T (p.Thr473Ile) rs200608977
NM_004035.7(ACOX1):c.1695T>C (p.Tyr565=) rs774049893
NM_004035.7(ACOX1):c.1771C>T (p.Arg591Cys) rs35629489
NM_004035.7(ACOX1):c.1821T>C (p.Val607=) rs762221413
NM_004035.7(ACOX1):c.1944A>G (p.Glu648=) rs374691393
NM_004035.7(ACOX1):c.405T>C (p.Thr135=) rs142474717
NM_004035.7(ACOX1):c.497A>G (p.Asn166Ser) rs145056278
NM_004035.7(ACOX1):c.574C>A (p.Gln192Lys) rs200833797
NM_004035.7(ACOX1):c.667G>A (p.Val223Ile) rs143260706
NM_004035.7(ACOX1):c.710A>G (p.Asn237Ser) rs1567876984
NM_004035.7(ACOX1):c.80C>T (p.Pro27Leu) rs145082938
NM_004035.7(ACOX1):c.825C>T (p.Tyr275=) rs542159010
NM_004035.7(ACOX1):c.912C>T (p.Ser304=) rs144826451
NM_004035.7(ACOX1):c.921G>A (p.Arg307=) rs79677613
NM_004035.7(ACOX1):c.954A>G (p.Glu318=) rs16968343

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