List of variants in gene NLRP12 reported as pathogenic for Familial cold autoinflammatory syndrome 2

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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_144687.4(NLRP12):c.850C>T (p.Arg284Ter)	rs104895564	0.00044
NM_144687.4(NLRP12):c.1054C>T (p.Arg352Cys)	rs199881207	0.00019
NM_144687.4(NLRP12):c.1113_1116del (p.Lys371fs)	rs1599842537
NM_144687.4(NLRP12):c.1170C>A (p.Tyr390Ter)	rs146245368
NM_144687.4(NLRP12):c.1223G>A (p.Trp408Ter)	rs774895361
NM_144687.4(NLRP12):c.1952C>A (p.Ser651Ter)	rs781361326
NM_144687.4(NLRP12):c.2072+2dup	rs104895565
NM_144687.4(NLRP12):c.2574_2585+13del	rs1302931500
NM_144687.4(NLRP12):c.2791G>T (p.Glu931Ter)	rs1404302953
NM_144687.4(NLRP12):c.882C>G (p.Asp294Glu)	rs147080557

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.