List of variants in gene NLRP3 reported as pathogenic

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: 38

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.55G>C (p.Asp19His)	rs200154873	0.00003
NM_001243133.2(NLRP3):c.1043C>T (p.Thr348Met)	rs151344629
NM_001243133.2(NLRP3):c.1055C>T (p.Ala352Val)	rs121908149
NM_001243133.2(NLRP3):c.1058T>C (p.Leu353Pro)	rs28937896
NM_001243133.2(NLRP3):c.1065A>C (p.Lys355Asn)	rs1131691298
NM_001243133.2(NLRP3):c.1213A>C (p.Thr405Pro)	rs180177445
NM_001243133.2(NLRP3):c.1217T>C (p.Met406Thr)	rs1662731815
NM_001243133.2(NLRP3):c.1305G>C (p.Lys435Asn)
NM_001243133.2(NLRP3):c.1307C>T (p.Thr436Ile)	rs180177433
NM_001243133.2(NLRP3):c.1315G>A (p.Ala439Thr)	rs180177430
NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val)	rs121908146
NM_001243133.2(NLRP3):c.1568T>G (p.Phe523Cys)	rs180177478
NM_001243133.2(NLRP3):c.1699G>A (p.Glu567Lys)	rs104895389
NM_001243133.2(NLRP3):c.1705G>A (p.Gly569Arg)	rs121908151
NM_001243133.2(NLRP3):c.1705G>C (p.Gly569Arg)	rs121908151
NM_001243133.2(NLRP3):c.1706G>C (p.Gly569Ala)	rs180177491
NM_001243133.2(NLRP3):c.1709A>G (p.Tyr570Cys)	rs180177438
NM_001243133.2(NLRP3):c.1718T>C (p.Phe573Ser)	rs121908152
NM_001243133.2(NLRP3):c.1880A>G (p.Glu627Gly)	rs121908148
NM_001243133.2(NLRP3):c.2263G>A (p.Gly755Arg)
NM_001243133.2(NLRP3):c.2575T>C (p.Tyr859His)	rs2103174031
NM_001243133.2(NLRP3):c.2576A>G (p.Tyr859Cys)	rs180177452
NM_001243133.2(NLRP3):c.2753G>A (p.Arg918Gln)	rs1553293095
NM_001243133.2(NLRP3):c.29G>T (p.Arg10Met)	rs2103083622
NM_001243133.2(NLRP3):c.778C>T (p.Arg260Ter)	rs121908150
NM_001243133.2(NLRP3):c.778_780delinsTGG (p.Arg260Trp)	rs2103107063
NM_001243133.2(NLRP3):c.779_780delinsCG (p.Arg260Pro)
NM_001243133.2(NLRP3):c.902G>A (p.Gly301Asp)	rs180177441
NM_001243133.2(NLRP3):c.905T>G (p.Phe302Cys)	rs1662701151
NM_001243133.2(NLRP3):c.907G>A (p.Asp303Asn)	rs121908153
NM_001243133.2(NLRP3):c.908A>G (p.Asp303Gly)	rs180177447
NM_001243133.2(NLRP3):c.910G>A (p.Glu304Lys)	rs180177484
NM_001243133.2(NLRP3):c.914T>C (p.Leu305Pro)	rs180177431
NM_001243133.2(NLRP3):c.920G>T (p.Gly307Val)	rs180177468
NM_001243133.2(NLRP3):c.926T>C (p.Phe309Ser)	rs121908154
NM_001243133.2(NLRP3):c.931G>A (p.Glu311Lys)	rs180177470
NM_001243133.2(NLRP3):c.977G>A (p.Gly326Glu)	rs180177456

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.