ClinVar Miner

List of variants in gene NLRP3 reported as likely pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001243133.2(NLRP3):c.1213A>C (p.Thr405Pro) rs180177445
NM_001243133.2(NLRP3):c.1306A>G (p.Thr436Ala) rs180177465
NM_001243133.2(NLRP3):c.1783A>G (p.Ser595Gly) rs1553287287
NM_001243133.2(NLRP3):c.2575T>C (p.Tyr859His) rs2103174031
NM_001243133.2(NLRP3):c.2753G>A (p.Arg918Gln) rs1553293095
NM_001243133.2(NLRP3):c.785T>G (p.Val262Gly) rs104895392
NM_001243133.2(NLRP3):c.919G>C (p.Gly307Arg) rs1057524777

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.