ClinVar Miner

Variants in gene AMT 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 Variants with at least 2 submissions 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 kind of conflict
81 8 6 11 3 0 4 19

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 3 8 4 0 0
likely pathogenic 8 3 1 0 0
uncertain significance 4 1 0 3 2
likely benign 0 0 3 0 3
benign 0 0 2 3 0

All variants with conflicting interpretations #

Total variants: 19
Download table as spreadsheet
NM_000481.3(AMT):c.1145G>A (p.Arg382Gln) rs141246107
NM_000481.3(AMT):c.125A>G (p.His42Arg) rs121964983
NM_000481.3(AMT):c.139G>A (p.Gly47Arg) rs121964982
NM_000481.3(AMT):c.153G>A (p.Ala51=) rs768510463
NM_000481.3(AMT):c.217C>T (p.Arg73Cys) rs386833679
NM_000481.3(AMT):c.230C>T (p.Ser77Leu) rs386833680
NM_000481.3(AMT):c.350C>T (p.Ser117Leu) rs769468125
NM_000481.3(AMT):c.471+2T>C rs386833684
NM_000481.3(AMT):c.574C>T (p.Gln192Ter) rs121964986
NM_000481.3(AMT):c.631G>A (p.Glu211Lys) rs116192290
NM_000481.3(AMT):c.664C>T (p.Arg222Cys) rs781466698
NM_000481.3(AMT):c.826G>C (p.Asp276His) rs121964984
NM_000481.3(AMT):c.878-1G>A rs181134220
NM_000481.3(AMT):c.887G>A (p.Arg296His) rs386833690
NM_000481.3(AMT):c.898A>G (p.Met300Val) rs144971200
NM_000481.3(AMT):c.958C>T (p.Arg320Cys) rs866625610
NM_000481.3(AMT):c.959G>A (p.Arg320His) rs121964985
NM_000481.3(AMT):c.982dup (p.Ala328fs) rs1553638266
NM_001164710.2(AMT):c.340-442_340-428del rs386833683

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