ClinVar Miner

List of variants in gene NPC2 reported as benign for Niemann-Pick disease, type C2

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006432.5(NPC2):c.442-4A>C rs114950106 0.00742
NM_006432.5(NPC2):c.190+14G>A rs189666920 0.00476
NM_006432.5(NPC2):c.363+7G>A rs200463204 0.00093
NM_006432.5(NPC2):c.273T>C (p.Asp91=) rs151071820 0.00031
NM_006432.5(NPC2):c.191-14dup rs748909227

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.