List of variants reported as likely 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: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000543.5(SMPD1):c.1106A>G (p.Tyr369Cys)	rs372287825	0.00002
NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys)	rs769904764	0.00002
NM_000543.5(SMPD1):c.1148A>G (p.Asn383Ser)	rs776442314	0.00001
NM_000543.5(SMPD1):c.1112T>C (p.Leu371Pro)	rs2134017039
NM_000543.5(SMPD1):c.1341-10_1429dup	rs1554935254
NM_000543.5(SMPD1):c.1394T>C (p.Phe465Ser)	rs1319643225
NM_000543.5(SMPD1):c.1429C>A (p.Pro477Thr)	rs2134021440
NM_000543.5(SMPD1):c.1487-1G>A	rs2134022652
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His)	rs120074117
NM_000543.5(SMPD1):c.1638del (p.Leu547fs)	rs2134023610
NM_000543.5(SMPD1):c.938_939delinsTGGTGGGCCAGCATGGT (p.Pro313delinsLeuValGlyGlnHisGly)	rs2134012580

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.