List of variants in gene NPC1 reported as likely benign by Mayo Clinic Laboratories, Mayo Clinic

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

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser)	rs80358251	0.01055
NM_000271.5(NPC1):c.1554-1016C>T	rs145998218	0.00555
NM_000271.5(NPC1):c.2073G>A (p.Pro691=)	rs113013085	0.00490
NM_000271.5(NPC1):c.3450C>T (p.Asn1150=)	rs34715591	0.00373
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=)	rs151125564	0.00150
NM_000271.5(NPC1):c.1554-1010C>T	rs142706876	0.00050
NM_000271.5(NPC1):c.2130+26T>A	rs201543574	0.00001
NM_000271.5(NPC1):c.1947+10G>C	rs71534236
NM_000271.5(NPC1):c.2131-21dup	rs11299077
NM_000271.5(NPC1):c.2604+15dup	rs746440359
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=)	rs55724504
NM_000271.5(NPC1):c.956-7C>T	rs537484682

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.