ClinVar Miner

Variants in gene NLRP12 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 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
197 15 0 12 6 1 3 21

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 uncertain significance likely benign benign risk factor
pathogenic 0 3 0 0 0
uncertain significance 3 0 5 2 0
likely benign 0 5 0 12 0
benign 0 2 12 0 1
risk factor 0 0 0 1 0

All variants with conflicting interpretations #

Total variants: 21
Download table as spreadsheet
HGVS dbSNP
NM_144687.3(NLRP12):c.1054C>T (p.Arg352Cys) rs199881207
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.1854C>G (p.Tyr618Ter) rs142487599
NM_144687.3(NLRP12):c.2141A>G (p.Asn714Ser) rs150848917
NM_144687.3(NLRP12):c.2206G>A (p.Gly736Arg) rs554602951
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.850C>T (p.Arg284Ter) rs104895564
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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