ClinVar Miner

List of variants in gene NLRP12 reported as likely benign for Familial cold autoinflammatory syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_144687.4(NLRP12):c.969T>G (p.Leu323=) rs142063194 0.00814
NM_144687.3(NLRP12):c.*362G>T rs562576939 0.00280
NM_144687.4(NLRP12):c.2141A>G (p.Asn714Ser) rs150848917 0.00278
NM_001277126.1(NLRP12):c.*471A>G rs544178725 0.00175
NM_144687.4(NLRP12):c.2212A>C (p.Arg738=) rs199966186 0.00016
NM_144687.4(NLRP12):c.2828_2829dup (p.Arg944fs) rs533054990
NM_144687.4(NLRP12):c.2830C>A (p.Arg944=) rs104895570
NM_144687.4(NLRP12):c.2927+4_2927+5dup rs763190690

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.