List of variants reported as likely benign for Niemann-Pick disease type C by Illumina Laboratory Services, Illumina

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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000271.4(NPC1):c.-238C>G	rs8099071	0.11990
NM_000271.5(NPC1):c.1503C>T (p.Asp501=)	rs116046557	0.01665
NM_000271.5(NPC1):c.1300C>T (p.Pro434Ser)	rs61731962	0.01305
NM_000271.4(NPC1):c.-179C>T	rs145693774	0.01171
NM_000271.5(NPC1):c.2073G>A (p.Pro691=)	rs113013085	0.00465
NM_000271.5(NPC1):c.1947+14_1947+15insC	rs201170241	0.00371
NM_000271.5(NPC1):c.3441C>T (p.Ile1147=)	rs116436235	0.00352
NM_000271.5(NPC1):c.3477+4A>G	rs114073738	0.00292
NM_006432.5(NPC2):c.*9T>C	rs80216539	0.00243
NM_000271.5(NPC1):c.*68G>A	rs139720390	0.00123
NM_000271.5(NPC1):c.445G>A (p.Gly149Arg)	rs143205855	0.00015
NM_000271.5(NPC1):c.501A>G (p.Ser167=)	rs202148667	0.00011
NM_000271.5(NPC1):c.1947+10G>C	rs71534236

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.