ClinVar Miner

Variants in gene NLRP3 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
391 38 0 11 10 0 1 20

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 1 1 0
likely pathogenic 1 0 0 0 0
uncertain significance 1 0 0 9 2
likely benign 1 0 9 0 10
benign 0 0 2 10 0

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
NM_001243133.2(NLRP3):c.1020C>T (p.Pro340=) rs41311573
NM_001243133.2(NLRP3):c.1920C>T (p.Phe640=) rs34698071
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys) rs35829419
NM_001243133.2(NLRP3):c.3005+25C>T rs61841189
NM_001243133.2(NLRP3):c.789C>T (p.Ser263=) rs146442638
NM_004895.4(NLRP3):c.1395C>T (p.His465=) rs111400208
NM_004895.4(NLRP3):c.1407C>T (p.Leu469=) rs141637807
NM_004895.4(NLRP3):c.1645A>T (p.Ser549Cys) rs139833874
NM_004895.4(NLRP3):c.2124C>T (p.Leu708=) rs149493236
NM_004895.4(NLRP3):c.214G>A (p.Val72Met) rs117287351
NM_004895.4(NLRP3):c.2182A>G (p.Ser728Gly) rs147946775
NM_004895.4(NLRP3):c.2499-8T>A rs199858933
NM_004895.4(NLRP3):c.2861C>T (p.Thr954Met) rs139814109
NM_004895.4(NLRP3):c.3054A>C (p.Leu1018Phe) rs143548979
NM_004895.4(NLRP3):c.403+7G>A rs192297357
NM_004895.4(NLRP3):c.410G>A (p.Arg137His) rs138946894
NM_004895.4(NLRP3):c.598G>A (p.Val200Met) rs121908147
NM_004895.4(NLRP3):c.61G>C (p.Asp21His) rs200154873
NM_004895.4(NLRP3):c.936C>T (p.Asp312=) rs143840033
NM_004895.4(NLRP3):c.950C>T (p.Pro317Leu) rs180177462

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