List of variants studied for Mucopolysaccharidosis, MPS-II by Natera, Inc.

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000202.8(IDS):c.438C>T (p.Thr146=)	rs1141608	0.32051
NM_000202.8(IDS):c.641C>T (p.Thr214Met)	rs61736892	0.01492
NM_000202.8(IDS):c.1269C>T (p.Pro423=)	rs61736890	0.00558
NM_000202.8(IDS):c.507+6G>T	rs370769925	0.00013
NM_000202.8(IDS):c.1006+8T>C	rs782781942	0.00008
NM_000202.8(IDS):c.23G>T (p.Arg8Leu)	rs782621858	0.00005
NM_000202.8(IDS):c.162T>C (p.Tyr54=)	rs141088021	0.00004
NM_000202.8(IDS):c.450G>A (p.Pro150=)	rs201892132	0.00004
NM_000202.8(IDS):c.1284C>T (p.His428=)	rs782163574	0.00003
NM_000202.8(IDS):c.1372C>T (p.Arg458Cys)	rs782340858	0.00003
NM_000202.8(IDS):c.696C>T (p.Phe232=)	rs782498858	0.00002
NM_000202.8(IDS):c.97A>T (p.Thr33Ser)	rs782158763	0.00002
NM_000202.8(IDS):c.237G>A (p.Ala79=)	rs782183418	0.00001
NM_000202.8(IDS):c.933C>T (p.Val311=)	rs782608372	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.