ClinVar Miner

Variants in gene CHST3 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
244 6 0 1 8 0 3 12

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 3 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 3 0 0 2 6
likely benign 0 0 2 0 0
benign 0 0 6 0 0

All variants with conflicting interpretations #

Total variants: 12
Download table as spreadsheet
HGVS dbSNP
NM_004273.5(CHST3):c.1135C>T (p.Leu379=) rs564028722
NM_004273.5(CHST3):c.1197C>T (p.Asp399=) rs184636110
NM_004273.5(CHST3):c.1251G>C (p.Thr417=) rs140411224
NM_004273.5(CHST3):c.1347C>T (p.Arg449=) rs200249458
NM_004273.5(CHST3):c.417C>T (p.Ala139=) rs144287889
NM_004273.5(CHST3):c.422C>T (p.Thr141Met) rs267606735
NM_004273.5(CHST3):c.475T>A (p.Phe159Ile) rs145538723
NM_004273.5(CHST3):c.533dup (p.Ala179fs) rs769540174
NM_004273.5(CHST3):c.561G>C (p.Val187=) rs147804585
NM_004273.5(CHST3):c.570C>T (p.Asp190=) rs367857089
NM_004273.5(CHST3):c.828C>T (p.Arg276=) rs140547825
NM_004273.5(CHST3):c.911G>A (p.Arg304Gln) rs28937593

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