ClinVar Miner

Variants in gene CHAT with conflicting interpretations

See also:
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
246 22 0 10 1 0 5 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 0 4 0 0
likely pathogenic 0 0 1 0 0
uncertain significance 4 1 0 1 0
likely benign 0 0 1 0 10
benign 0 0 0 10 0

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_020549.4(CHAT):c.1198G>A (p.Asp400Asn) rs8178991
NM_020549.4(CHAT):c.1248C>T (p.Asn416=) rs116071049
NM_020549.4(CHAT):c.1321G>A (p.Glu441Lys) rs121912816
NM_020549.4(CHAT):c.1372C>T (p.Leu458Phe) rs76014951
NM_020549.4(CHAT):c.141C>G (p.Asp47Glu) rs3810948
NM_020549.4(CHAT):c.1444A>G (p.Arg482Gly) rs121912818
NM_020549.4(CHAT):c.1679G>A (p.Arg560His) rs121912819
NM_020549.4(CHAT):c.1682G>A (p.Arg561Gln) rs80097077
NM_020549.4(CHAT):c.2067C>T (p.Ile689=) rs3793801
NM_020549.4(CHAT):c.406G>A (p.Val136Met) rs201479289
NM_020549.4(CHAT):c.438C>T (p.Tyr146=) rs61731734
NM_020549.4(CHAT):c.580-35G>A rs1880677
NM_020549.4(CHAT):c.620G>A (p.Arg207His) rs764497513
NM_020549.4(CHAT):c.711C>G (p.Ser237Arg) rs78925077
NM_020549.4(CHAT):c.727C>T (p.Leu243Phe) rs8178990
NM_020549.4(CHAT):c.903T>C (p.Pro301=) rs113897064

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