List of variants studied for Mucopolysaccharidosis, MPS-I-S

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

Total variants: 19

Download table as spreadsheet

HGVS	dbSNP
NM_000203.5(IDUA):c.1049A>G (p.Asn350Ser)	rs1577541140
NM_000203.5(IDUA):c.1360G>A (p.Val454Ile)	rs73066479
NM_000203.5(IDUA):c.1402+36T>C	rs115134980
NM_000203.5(IDUA):c.1475G>C (p.Arg492Pro)	rs121965026
NM_000203.5(IDUA):c.1727+72T>G
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)	rs121965020
NM_000203.5(IDUA):c.299+3990A>G
NM_000203.5(IDUA):c.314G>A (p.Arg105Gln)	rs3755955
NM_000203.5(IDUA):c.352C>T (p.Leu118=)	rs3755954
NM_000203.5(IDUA):c.543T>C (p.Asn181=)	rs6815946
NM_000203.5(IDUA):c.590-45G>C	rs6829789
NM_000203.5(IDUA):c.590-7G>A	rs762411583
NM_000203.5(IDUA):c.590-8C>T	rs6848974
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr)	rs201826605
NM_000203.5(IDUA):c.891C>T (p.Asn297=)	rs114806891
NM_000203.5(IDUA):c.942G>C (p.Ala314=)	rs6830825
NM_000203.5(IDUA):c.972+48A>G	rs6811373
NM_000203.5(IDUA):c.973-45G>C	rs6831021
NM_000203.5(IDUA):c.99T>G (p.His33Gln)	rs10794537

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.