List of variants reported as likely benign for Gaucher disease due to saposin C deficiency 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: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002778.4(PSAP):c.88G>T (p.Ala30Ser)	rs144942998	0.00051
NM_002778.4(PSAP):c.-29C>T	rs201780377	0.00035
NM_002778.4(PSAP):c.*376A>G	rs141906397	0.00016
NM_002778.4(PSAP):c.*737G>A	rs147046509	0.00016
NM_002778.4(PSAP):c.557G>A (p.Arg186His)	rs138880818	0.00013
NM_002778.4(PSAP):c.1172C>T (p.Thr391Met)	rs202125074	0.00010
NM_002778.4(PSAP):c.1456C>T (p.His486Tyr)	rs749660716	0.00008
NM_002778.4(PSAP):c.1000A>T (p.Thr334Ser)	rs749663645	0.00006
NM_002778.4(PSAP):c.227T>A (p.Met76Lys)	rs377024801	0.00006
NM_002778.4(PSAP):c.249+6C>T	rs774663731	0.00006
NM_002778.4(PSAP):c.112A>T (p.Thr38Ser)	rs535525554	0.00002
NM_002778.4(PSAP):c.1432-4A>G	rs775086571	0.00001

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.