ClinVar Miner

Variants with conflicting interpretations studied for Familial cold autoinflammatory syndrome

Coded as:
Minimum review status of the submission for Familial cold autoinflammatory syndrome: Y axis collection method of the submission for Familial cold autoinflammatory 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
57 54 0 25 14 1 1 37

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
Familial cold autoinflammatory syndrome pathogenic uncertain significance benign risk factor
uncertain significance 0 0 2 0
likely benign 1 11 25 0
benign 0 1 0 1

Condition to condition summary #

Total conditions: 7
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
not specified 0 16 0 11 5 0 0 16
Familial cold autoinflammatory syndrome 2 0 7 0 11 3 0 0 13
not provided 0 13 0 5 7 0 0 12
Cryopyrin associated periodic syndrome 0 3 0 10 1 0 0 11
Familial cold urticaria 0 8 0 0 1 0 1 2
Chronic infantile neurological, cutaneous and articular syndrome; Familial amyloid nephropathy with urticaria AND deafness; Familial cold urticaria 0 0 0 0 1 0 0 1
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, SUSCEPTIBILITY TO 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 37
Download table as spreadsheet
HGVS dbSNP
NM_004895.4(NLRP3):c.1026C>T (p.Pro342=) rs41311573
NM_004895.4(NLRP3):c.1038G>A (p.Leu346=) rs180177471
NM_004895.4(NLRP3):c.1050G>A (p.Thr350=) rs143140947
NM_004895.4(NLRP3):c.1125G>A (p.Glu375=) rs138613962
NM_004895.4(NLRP3):c.1237C>T (p.Leu413=) rs148478875
NM_004895.4(NLRP3):c.1395C>T (p.His465=) rs111400208
NM_004895.4(NLRP3):c.1469G>A (p.Arg490Lys) rs145268073
NM_004895.4(NLRP3):c.1590C>T (p.Ala530=) rs201644343
NM_004895.4(NLRP3):c.1606C>T (p.Leu536=) rs116054301
NM_004895.4(NLRP3):c.1926C>T (p.Phe642=) rs34698071
NM_004895.4(NLRP3):c.2113C>A (p.Gln705Lys) rs35829419
NM_004895.4(NLRP3):c.2124C>T (p.Leu708=) rs149493236
NM_004895.4(NLRP3):c.213C>T (p.Ala71=) rs200082602
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.2861C>T (p.Thr954Met) rs139814109
NM_004895.4(NLRP3):c.403+7G>A rs192297357
NM_004895.4(NLRP3):c.429C>T (p.Tyr143=) rs56710146
NM_004895.4(NLRP3):c.598G>A (p.Val200Met) rs121908147
NM_004895.4(NLRP3):c.950C>T (p.Pro317Leu) rs180177462
NM_144687.3(NLRP12):c.1206C>G (p.Phe402Leu) rs34971363
NM_144687.3(NLRP12):c.1349C>T (p.Pro450Leu) rs143640165
NM_144687.3(NLRP12):c.2141A>G (p.Asn714Ser) rs150848917
NM_144687.3(NLRP12):c.2575C>T (p.Arg859Trp) rs573629753
NM_144687.3(NLRP12):c.2576G>A (p.Arg859Gln) rs79884502
NM_144687.3(NLRP12):c.2701G>C (p.Val901Leu) rs104895568
NM_144687.3(NLRP12):c.2754G>C (p.Leu918=) rs61741347
NM_144687.3(NLRP12):c.2755C>T (p.Arg919Trp) rs61741349
NM_144687.3(NLRP12):c.2784C>T (p.Ala928=) rs104895569
NM_144687.3(NLRP12):c.2830C>A (p.Arg944=) rs104895570
NM_144687.3(NLRP12):c.2927+4_2927+5dup rs763190690
NM_144687.3(NLRP12):c.3024C>T (p.Asn1008=) rs140769141
NM_144687.3(NLRP12):c.609C>T (p.Asp203=) rs34854934
NM_144687.3(NLRP12):c.779C>T (p.Thr260Met) rs150280940
NM_144687.3(NLRP12):c.910C>T (p.His304Tyr) rs141245482
NM_144687.3(NLRP12):c.960G>A (p.Thr320=) rs77625808
NM_144687.3(NLRP12):c.969T>G (p.Leu323=) rs142063194

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