ClinVar Miner

Variants with conflicting interpretations studied for Cryopyrin associated periodic syndrome

Coded as:
Minimum review status of the submission for Cryopyrin associated periodic syndrome: Y axis collection method of the submission for Cryopyrin associated periodic syndrome:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
19 11 0 12 8 0 3 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.

All conditions
Cryopyrin associated periodic syndrome pathogenic likely pathogenic uncertain significance likely benign benign
uncertain significance 1 1 0 1 0
likely benign 0 0 4 0 1
benign 1 0 3 11 0

Condition to condition summary #

Total conditions: 8
Download table as spreadsheet
Condition 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
Familial cold autoinflammatory syndrome 0 2 0 10 1 0 0 11
Chronic infantile neurological, cutaneous and articular syndrome 0 2 0 8 1 0 0 9
Familial amyloid nephropathy with urticaria AND deafness 0 3 0 8 1 0 0 9
not provided 0 12 0 2 6 0 1 8
not specified 0 7 0 7 1 0 0 8
Chronic infantile neurological, cutaneous and articular syndrome; Familial amyloid nephropathy with urticaria AND deafness; Familial cold urticaria 0 1 0 0 2 0 0 2
DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION 0 0 0 0 0 0 1 1
Familial cold urticaria 0 13 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
HGVS dbSNP
NM_001243133.1(NLRP3):c.1020C>T (p.Pro340=) rs41311573
NM_001243133.1(NLRP3):c.1032G>A (p.Leu344=) rs180177471
NM_001243133.1(NLRP3):c.1231C>T (p.Leu411=) rs148478875
NM_001243133.1(NLRP3):c.1306A>G (p.Thr436Ala) rs180177465
NM_001243133.1(NLRP3):c.1389C>T (p.His463=) rs111400208
NM_001243133.1(NLRP3):c.1463G>A (p.Arg488Lys) rs145268073
NM_001243133.1(NLRP3):c.1600C>T (p.Leu534=) rs116054301
NM_001243133.1(NLRP3):c.592G>A (p.Val198Met) rs121908147
NM_001243133.1(NLRP3):c.674C>T (p.Ala225Val) rs180177493
NM_001243133.1(NLRP3):c.930C>T (p.Asp310=) rs143840033
NM_004895.4(NLRP3):c.1125G>A (p.Glu375=) rs138613962
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.2113C>A (p.Gln705Lys) rs35829419
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.2494C>A (p.Leu832Ile) rs114158404
NM_004895.4(NLRP3):c.2759G>A (p.Arg920Gln) rs1553293095
NM_004895.4(NLRP3):c.403+7G>A rs192297357
NM_004895.4(NLRP3):c.429C>T (p.Tyr143=) rs56710146

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