ClinVar Miner

Variants in gene ALDH5A1 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
271 31 0 8 9 0 1 16

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 0 0 0
likely pathogenic 1 0 1 0 0
uncertain significance 0 1 0 9 0
likely benign 0 0 9 0 7
benign 0 0 0 7 0

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_001080.3(ALDH5A1):c.1107C>T (p.Arg369=) rs148188703
NM_001080.3(ALDH5A1):c.1323dup (p.Pro442fs) rs1561879345
NM_001080.3(ALDH5A1):c.1344-6T>C rs368212282
NM_001080.3(ALDH5A1):c.1348G>A (p.Asp450Asn) rs144177566
NM_001080.3(ALDH5A1):c.293C>G (p.Ala98Gly) rs535825137
NM_001080.3(ALDH5A1):c.480C>T (p.Ser160=) rs143486700
NM_001080.3(ALDH5A1):c.515G>A (p.Arg172His) rs773814880
NM_001080.3(ALDH5A1):c.525C>T (p.Tyr175=) rs372455508
NM_001080.3(ALDH5A1):c.538C>T (p.His180Tyr) rs2760118
NM_001080.3(ALDH5A1):c.545C>T (p.Pro182Leu) rs3765310
NM_001080.3(ALDH5A1):c.651C>T (p.Ala217=) rs4646837
NM_001080.3(ALDH5A1):c.678G>C (p.Val226=) rs113591366
NM_001080.3(ALDH5A1):c.709G>T (p.Ala237Ser) rs62621664
NM_001080.3(ALDH5A1):c.831G>A (p.Val277=) rs138912422
NM_001080.3(ALDH5A1):c.862A>G (p.Thr288Ala) rs373320785
NM_001080.3(ALDH5A1):c.961G>A (p.Val321Met) rs115784602

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