ClinVar Miner

Variants in gene SLC25A22 with conflicting interpretations

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 21 0 13 15 0 0 22

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 0 0 0
uncertain significance 0 0 0 12 9
likely benign 0 0 12 0 12
benign 0 0 9 12 0

All variants with conflicting interpretations #

Total variants: 22
Download table as spreadsheet
HGVS dbSNP
NM_001191061.2(SLC25A22):c.132C>T (p.Arg44=) rs146402942
NM_001191061.2(SLC25A22):c.151G>A (p.Asp51Asn) rs116134953
NM_001191061.2(SLC25A22):c.169G>A (p.Val57Ile) rs150242281
NM_001191061.2(SLC25A22):c.293+27G>A rs79478359
NM_001191061.2(SLC25A22):c.327G>A (p.Ala109=) rs141975755
NM_001191061.2(SLC25A22):c.379C>T (p.Leu127=) rs746201051
NM_001191061.2(SLC25A22):c.413-7T>C rs969941249
NM_001191061.2(SLC25A22):c.413-8G>C rs376015598
NM_001191061.2(SLC25A22):c.414C>T (p.Ala138=) rs199887745
NM_001191061.2(SLC25A22):c.464G>C (p.Gly155Ala) rs200992080
NM_001191061.2(SLC25A22):c.495C>T (p.Ala165=) rs374780430
NM_001191061.2(SLC25A22):c.500G>A (p.Arg167Gln) rs201089795
NM_001191061.2(SLC25A22):c.570C>T (p.Leu190=) rs145322467
NM_001191061.2(SLC25A22):c.579G>A (p.Thr193=) rs141430143
NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=) rs147840220
NM_001191061.2(SLC25A22):c.617C>T (p.Pro206Leu) rs121918334
NM_001191061.2(SLC25A22):c.618G>A (p.Pro206=) rs150544061
NM_001191061.2(SLC25A22):c.705T>C (p.Ala235=) rs142861804
NM_001191061.2(SLC25A22):c.726C>T (p.Ala242=) rs771026197
NM_001191061.2(SLC25A22):c.834C>T (p.His278=) rs187824231
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=) rs146300431
NM_001191061.2(SLC25A22):c.885C>T (p.Ile295=) rs543285265

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