List of variants in gene IDUA reported as likely benign by Natera, Inc.

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 27

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000203.5(IDUA):c.1727+75G>T	rs2305489	0.04671
NM_000203.5(IDUA):c.1293C>T (p.Ala431=)	rs559676638	0.00298
NM_000203.5(IDUA):c.346G>A (p.Gly116Arg)	rs148946496	0.00289
NM_000203.5(IDUA):c.493+10C>T	rs200000194	0.00156
NM_000203.5(IDUA):c.408C>T (p.Ala136=)	rs138195998	0.00081
NM_000203.5(IDUA):c.1332C>T (p.Asp444=)	rs545473192	0.00020
NM_000203.5(IDUA):c.405C>T (p.Ser135=)	rs201326626	0.00009
NM_000203.5(IDUA):c.882C>T (p.Pro294=)	rs762825338	0.00007
NM_000203.5(IDUA):c.1773G>A (p.Ala591=)	rs148894462	0.00006
NM_000203.5(IDUA):c.1800G>A (p.Ser600=)	rs763047621	0.00006
NM_000203.5(IDUA):c.765G>C (p.Arg255=)	rs965929339	0.00006
NM_000203.5(IDUA):c.1031C>G (p.Ala344Gly)	rs202191662	0.00004
NM_000203.5(IDUA):c.1425C>T (p.Tyr475=)	rs370257928	0.00003
NM_000203.5(IDUA):c.1776C>T (p.Tyr592=)	rs372033248	0.00003
NM_000203.5(IDUA):c.1224C>T (p.Ala408=)	rs774488302	0.00002
NM_000203.5(IDUA):c.1056C>T (p.Phe352=)	rs776110061	0.00001
NM_000203.5(IDUA):c.1536C>T (p.Ala512=)	rs1392263774	0.00001
NM_000203.5(IDUA):c.534G>A (p.Glu178=)	rs762533612	0.00001
NM_000203.5(IDUA):c.693C>T (p.Ser231=)	rs529773032	0.00001
NM_000203.5(IDUA):c.757G>T (p.Gly253Cys)	rs546933529	0.00001
NM_000203.5(IDUA):c.1449C>T (p.Pro483=)	rs761637332
NM_000203.5(IDUA):c.1479C>G (p.Pro493=)	rs370394527
NM_000203.5(IDUA):c.1651-10C>T	rs548878643
NM_000203.5(IDUA):c.1856G>A (p.Arg619Gln)	rs372137794
NM_000203.5(IDUA):c.590-8C>G	rs6848974
NM_000203.5(IDUA):c.675C>T (p.Phe225=)	rs767436466
NM_000203.5(IDUA):c.793-9C>T	rs375798875

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.