ClinVar Miner

List of variants in gene NPC1L1 reported by Breakthrough Genomics, Breakthrough Genomics

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

Total variants: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001101648.2(NPC1L1):c.3617T>A (p.Ile1206Asn)	rs52815063	0.00800
NM_001101648.2(NPC1L1):c.1059G>C (p.Leu353=)	rs148399787	0.00042
NM_001101648.2(NPC1L1):c.2514C>G (p.Pro838=)	rs143681066

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.