List of variants reported as pathogenic for Niemann-Pick disease, type A by Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS

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: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000543.5(SMPD1):c.605G>A (p.Arg202His)	rs757850587	0.00004
NM_000543.5(SMPD1):c.1252C>T (p.Arg418Ter)	rs755160837	0.00001
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe)	rs200652683	0.00001
NM_000543.5(SMPD1):c.1071_1081del (p.Glu358fs)	rs2134013240
NM_000543.5(SMPD1):c.1088T>G (p.Leu363Arg)	rs2134013368
NM_000543.5(SMPD1):c.1151del (p.Met384fs)	rs2134017306
NM_000543.5(SMPD1):c.1171A>C (p.Asn391His)	rs2134017443
NM_000543.5(SMPD1):c.1598C>A (p.Pro533Gln)	rs199915216
NM_000543.5(SMPD1):c.1699C>T (p.Gln567Ter)	rs943865463
NM_000543.5(SMPD1):c.1817del (p.Pro606fs)	rs1554935746
NM_000543.5(SMPD1):c.257G>A (p.Trp86Ter)	rs2134006592
NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro)	rs751269562
NM_000543.5(SMPD1):c.504dup (p.His169fs)	rs2134009550
NM_000543.5(SMPD1):c.505dup (p.His169fs)	rs781535659
NM_000543.5(SMPD1):c.518dup (p.Ser174fs)	rs786204733
NM_000543.5(SMPD1):c.647T>G (p.Leu216Arg)	rs1590738910
NM_000543.5(SMPD1):c.933_936delinsGAC (p.Val312fs)	rs2134012543

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.