ClinVar Miner

Variants in gene ACAD9 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
685 51 0 21 13 0 9 37

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 11 4 1 1
likely pathogenic 11 0 6 1 0
uncertain significance 4 6 0 12 3
likely benign 1 1 12 0 10
benign 1 0 3 10 0

All variants with conflicting interpretations #

Total variants: 37
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014049.5(ACAD9):c.-44_-41dup rs387906242 0.04863
NM_014049.5(ACAD9):c.976G>A (p.Ala326Thr) rs115532916 0.02662
NM_014049.5(ACAD9):c.1430G>A (p.Arg477Gln) rs4494951 0.01364
NM_014049.5(ACAD9):c.150+87C>T rs111805092 0.00832
NM_014049.5(ACAD9):c.988A>C (p.Lys330Gln) rs79530903 0.00107
NM_014049.5(ACAD9):c.453+8A>G rs199919500 0.00092
NM_014049.5(ACAD9):c.454-20T>C rs140366274 0.00088
NM_014049.5(ACAD9):c.1221A>G (p.Thr407=) rs139048558 0.00066
NM_014049.5(ACAD9):c.1022T>C (p.Leu341Ser) rs141874052 0.00061
NM_014049.5(ACAD9):c.195T>C (p.Asn65=) rs144978857 0.00048
NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp) rs139145143 0.00042
NM_014049.5(ACAD9):c.152A>T (p.Lys51Ile) rs149931573 0.00041
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys) rs150283105 0.00014
NM_014049.5(ACAD9):c.808+20G>A rs531217490 0.00008
NM_014049.5(ACAD9):c.538C>T (p.Leu180Phe) rs146453758 0.00004
NM_014049.5(ACAD9):c.868G>A (p.Gly290Arg) rs1018093316 0.00004
NM_014049.5(ACAD9):c.1298G>A (p.Arg433Gln) rs781156571 0.00003
NM_014049.5(ACAD9):c.634-3C>T rs187282664 0.00003
NM_014049.5(ACAD9):c.662A>G (p.Asn221Ser) rs761452056 0.00003
NM_014049.5(ACAD9):c.728C>G (p.Thr243Arg) rs368222811 0.00003
NM_014049.5(ACAD9):c.1237G>A (p.Glu413Lys) rs149753643 0.00002
NM_014049.5(ACAD9):c.796C>T (p.Arg266Trp) rs753711253 0.00002
NM_014049.5(ACAD9):c.1062C>T (p.Tyr354=) rs886057957 0.00001
NM_014049.5(ACAD9):c.1168G>A (p.Ala390Thr) rs763004980 0.00001
NM_014049.5(ACAD9):c.1240C>T (p.Arg414Cys) rs777282696 0.00001
NM_014049.5(ACAD9):c.1398C>T (p.Thr466=) rs772732061 0.00001
NM_014049.5(ACAD9):c.1553G>A (p.Arg518His) rs781149699 0.00001
NM_014049.5(ACAD9):c.284A>C (p.Asp95Ala) rs761565265 0.00001
NM_014049.5(ACAD9):c.453+2T>A rs1179305061 0.00001
NM_014049.5(ACAD9):c.509C>T (p.Ala170Val) rs762521317 0.00001
NM_014049.5(ACAD9):c.1030-1G>A rs773586510
NM_014049.5(ACAD9):c.1331C>T (p.Ala444Val) rs549861940
NM_014049.5(ACAD9):c.1429C>T (p.Arg477Ter) rs866688232
NM_014049.5(ACAD9):c.15_40del (p.Leu6fs) rs746312225
NM_014049.5(ACAD9):c.359del (p.Phe120fs) rs863224844
NM_014049.5(ACAD9):c.976G>C (p.Ala326Pro) rs115532916

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