List of variants reported as benign for Niemann-Pick disease, type A 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_000543.5(SMPD1):c.107T>C (p.Val36Ala)	rs1050228	0.44445
NM_000543.5(SMPD1):c.1522G>A (p.Gly508Arg)	rs1050239	0.19762
NM_000543.5(SMPD1):c.*45G>A	rs8164	0.17086
NM_000543.5(SMPD1):c.636T>C (p.Asp212=)	rs7951904	0.15081
NM_000543.5(SMPD1):c.714A>G (p.Ala238=)	rs2682091	0.03664
NM_000543.5(SMPD1):c.*74A>C	rs1803160	0.02334
NM_000543.5(SMPD1):c.1749G>A (p.Ser583=)	rs35098198	0.01843
NM_000543.5(SMPD1):c.*91C>T	rs12273714	0.01778
NM_000543.5(SMPD1):c.807C>T (p.Ala269=)	rs35933246	0.01598
NM_000543.5(SMPD1):c.559C>T (p.Pro187Ser)	rs74053349	0.01580
NM_000543.5(SMPD1):c.1763C>T (p.Thr588Met)	rs35785620	0.01390
NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln)	rs35824453	0.01388
NM_000543.5(SMPD1):c.*294G>C	rs12278115

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.