ClinVar Miner

List of variants in gene NPC1 reported by Shanghain Institute for Pediatric Research

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
NM_000271.5(NPC1):c.1030del (p.Ser344fs) rs483352883
NM_000271.5(NPC1):c.1502A>T (p.Asp501Val) rs483352885
NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln) rs483352886
NM_000271.5(NPC1):c.1800del (p.Ile601fs) rs483352879
NM_000271.5(NPC1):c.1832A>G (p.Asp611Gly) rs483352887
NM_000271.5(NPC1):c.2054T>C (p.Ile685Thr) rs483352888
NM_000271.5(NPC1):c.2128C>T (p.Gln710Ter) rs483352889
NM_000271.5(NPC1):c.2177G>C (p.Arg726Thr) rs483352890
NM_000271.5(NPC1):c.2230_2231del (p.Val744fs) rs483352882
NM_000271.5(NPC1):c.2302dup (p.Val768fs) rs483352881
NM_000271.5(NPC1):c.2366G>A (p.Arg789His) rs483352891
NM_000271.5(NPC1):c.2795dup (p.Tyr932Ter) rs483352884
NM_000271.5(NPC1):c.2912-3C>G rs483352892
NM_000271.5(NPC1):c.416dup (p.Asn140fs) rs483352880

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.