List of variants reported as likely pathogenic for Niemann-Pick disease by Natera, Inc.

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: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg)	rs727504166	0.00004
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser)	rs587779408	0.00003
NM_000271.5(NPC1):c.1114C>T (p.Arg372Trp)	rs1346436537	0.00002
NM_000271.5(NPC1):c.3451G>A (p.Ala1151Thr)	rs765729815	0.00002
NM_000271.5(NPC1):c.3634G>T (p.Val1212Leu)	rs753419933	0.00002
NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys)	rs1053321823	0.00001
NM_000271.5(NPC1):c.2292G>A (p.Ala764=)	rs772565983	0.00001
NM_000271.5(NPC1):c.2849T>G (p.Val950Gly)	rs1057517978	0.00001
NM_000271.5(NPC1):c.3493G>A (p.Val1165Met)	rs748862167	0.00001
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln)	rs763566905	0.00001
NM_006432.5(NPC2):c.190+5G>A	rs80358268	0.00001
NM_000271.5(NPC1):c.1918G>A (p.Gly640Arg)	rs2058768195
NM_000271.5(NPC1):c.3042-1G>A	rs771806960
NM_000271.5(NPC1):c.3425T>C (p.Met1142Thr)	rs778878523
NM_000543.5(SMPD1):c.1264-1G>T	rs1057516454
NM_000543.5(SMPD1):c.318+2T>C	rs1225462507

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.