List of variants in gene NLRP1 studied for autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature

Minimum submission review status:		Collection method:
Minimum conflict level:
Gene type:		Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 5

Download table as spreadsheet

HGVS	dbSNP
NM_001033053.2(NLRP1):c.2358-?_2528+?del
NM_033004.4(NLRP1):c.160G>A (p.Ala54Thr)	rs1057519492
NM_033004.4(NLRP1):c.197C>T (p.Ala66Val)	rs1057519493
NM_033004.4(NLRP1):c.230T>C (p.Met77Thr)	rs397514692
NM_033004.4(NLRP1):c.922C>T (p.Arg308Ter)	rs758319723

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.