List of variants in gene NLRP3 reported as likely benign for Familial cold autoinflammatory syndrome 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met)	rs121908147	0.00835
NM_001243133.2(NLRP3):c.1463G>A (p.Arg488Lys)	rs145268073	0.00070
NM_001243133.2(NLRP3):c.2301C>G (p.Gly767=)	rs150229101	0.00057
NM_001243133.2(NLRP3):c.2855C>T (p.Thr952Met)	rs139814109	0.00051
NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly)	rs147946775	0.00049
NM_001243133.2(NLRP3):c.1245C>T (p.Ile415=)	rs139852370	0.00045
NM_001243133.2(NLRP3):c.1645T>C (p.Leu549=)	rs144469697	0.00038
NM_001243133.2(NLRP3):c.208G>A (p.Val70Met)	rs117287351	0.00031
NM_001243133.2(NLRP3):c.944C>T (p.Pro315Leu)	rs180177462	0.00010
NM_001243133.2(NLRP3):c.1361G>A (p.Gly454Glu)	rs199696688	0.00006
NM_001243133.2(NLRP3):c.476G>T (p.Ser159Ile)	rs374170024	0.00004

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.