ClinVar Miner

Variants in gene SLC4A1 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
202 26 1 3 4 1 7 13

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 affects
pathogenic 0 1 5 1 3 0
likely pathogenic 1 0 0 0 0 0
uncertain significance 5 0 1 4 1 1
likely benign 1 0 4 0 2 0
benign 3 0 1 2 0 0
affects 0 0 1 0 0 0

All variants with conflicting interpretations #

Total variants: 13
Download table as spreadsheet
HGVS dbSNP
NM_000342.3(SLC4A1):c.-62G>A rs387906565
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031
NM_000342.3(SLC4A1):c.980C>G (p.Pro327Arg) rs28931583
NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu) rs5036
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) rs121912745
NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln) rs121912757
NM_000342.4(SLC4A1):c.1972G>A (p.Glu658Lys) rs75731670
NM_000342.4(SLC4A1):c.2055C>T (p.Thr685=) rs375136281
NM_000342.4(SLC4A1):c.2561C>T (p.Pro854Leu) rs2285644
NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu) rs121912759
NM_000342.4(SLC4A1):c.2701C>T (p.Arg901Trp) rs201265160
NM_000342.4(SLC4A1):c.337G>A (p.Val113Ile) rs142757938
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His) rs147390654

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