List of variants reported as likely benign for Niemann-Pick disease, type C1 by Fulgent Genetics, Fulgent Genetics

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

Total variants: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000271.5(NPC1):c.882-40T>A	rs144469784	0.00420
NM_000271.5(NPC1):c.3441C>T (p.Ile1147=)	rs116436235	0.00352
NM_000271.5(NPC1):c.1532C>T (p.Thr511Met)	rs13381670	0.00283
NM_000271.5(NPC1):c.612C>T (p.Thr204=)	rs151084683	0.00122
NM_000271.5(NPC1):c.445G>A (p.Gly149Arg)	rs143205855	0.00015
NM_000271.5(NPC1):c.30C>T (p.Leu10=)	rs1432179735	0.00001
NM_000271.5(NPC1):c.1947+13G>C	rs568769965

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.