List of variants in gene NPC1 reported as benign for not provided

Minimum submission review status:		Collection method:
Minimum conflict level:
Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

Download table as spreadsheet

HGVS	dbSNP
NM_000271.5(NPC1):c.-22A>C	rs2303880
NM_000271.5(NPC1):c.1503C>T (p.Asp501=)	rs116046557
NM_000271.5(NPC1):c.1554-1021A>T	rs73392141
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile)	rs1788799
NM_000271.5(NPC1):c.2103C>T (p.Asn701=)	rs7227375
NM_000271.5(NPC1):c.2131-4del	rs11299077
NM_000271.5(NPC1):c.2131-5_2131-4del	rs11299077
NM_000271.5(NPC1):c.2131-6_2131-4del	rs11299077
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val)	rs1805082
NM_000271.5(NPC1):c.2604+30del	rs746440359
NM_000271.5(NPC1):c.2793C>T (p.Asn931=)	rs1140458
NM_000271.5(NPC1):c.2911+28T>C	rs6507720
NM_000271.5(NPC1):c.3246-20G>A	rs6507717
NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln)	rs1805084
NM_000271.5(NPC1):c.387T>C (p.Tyr129=)	rs12970899
NM_000271.5(NPC1):c.540C>T (p.Asp180=)	rs143656971
NM_000271.5(NPC1):c.644A>G (p.His215Arg)	rs1805081
NM_000271.5(NPC1):c.66A>G (p.Ser22=)	rs144415945

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.