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
471 14 0 6 16 0 4 25

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 3 2 0 0
likely pathogenic 3 0 2 0 0
uncertain significance 2 2 0 8 8
likely benign 0 0 8 0 3
benign 0 0 8 3 0

All variants with conflicting interpretations #

Total variants: 25
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004273.5(CHST3):c.1173C>A (p.Ile391=) rs115579748 0.00702
NM_004273.5(CHST3):c.417C>T (p.Ala139=) rs144287889 0.00564
NM_004273.5(CHST3):c.1347C>T (p.Arg449=) rs200249458 0.00498
NM_004273.5(CHST3):c.561G>C (p.Val187=) rs147804585 0.00444
NM_004273.5(CHST3):c.1428C>T (p.Phe476=) rs75845750 0.00421
NM_004273.5(CHST3):c.828C>T (p.Arg276=) rs140547825 0.00370
NM_004273.5(CHST3):c.1197C>T (p.Asp399=) rs184636110 0.00090
NM_004273.5(CHST3):c.1251G>C (p.Thr417=) rs140411224 0.00070
NM_004273.5(CHST3):c.1135C>T (p.Leu379=) rs564028722 0.00048
NM_004273.5(CHST3):c.348G>T (p.Glu116Asp) rs144885813 0.00048
NM_004273.5(CHST3):c.1003G>A (p.Glu335Lys) rs150466838 0.00043
NM_004273.5(CHST3):c.1044C>G (p.Ile348Met) rs3740128 0.00031
NM_004273.5(CHST3):c.423G>A (p.Thr141=) rs376107245 0.00012
NM_004273.5(CHST3):c.570C>T (p.Asp190=) rs367857089 0.00012
NM_004273.5(CHST3):c.540C>T (p.Asn180=) rs748812857 0.00004
NM_004273.5(CHST3):c.661C>T (p.Arg221Cys) rs746848315 0.00001
NM_004273.5(CHST3):c.1380C>A (p.Ala460=) rs369055984
NM_004273.5(CHST3):c.195C>T (p.Thr65=) rs759935618
NM_004273.5(CHST3):c.306C>T (p.Gly102=) rs776007496
NM_004273.5(CHST3):c.422C>T (p.Thr141Met) rs267606735
NM_004273.5(CHST3):c.430G>A (p.Gly144Ser) rs1360950889
NM_004273.5(CHST3):c.503T>G (p.Ile168Ser) rs1589509307
NM_004273.5(CHST3):c.533dup (p.Ala179fs) rs769540174
NM_004273.5(CHST3):c.688G>A (p.Glu230Lys) rs774599785
NM_004273.5(CHST3):c.911G>A (p.Arg304Gln) rs28937593

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