ClinVar Miner

List of variants studied for Mucopolysaccharidosis, MPS-III-C by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys) rs121908285
NM_152419.3(HGSNAT):c.1209G>T (p.Trp403Cys) rs764206492
NM_152419.3(HGSNAT):c.1345dup (p.Asp449fs) rs483352894
NM_152419.3(HGSNAT):c.1445T>A (p.Met482Lys) rs121908284
NM_152419.3(HGSNAT):c.1553C>T (p.Ser518Phe) rs121908286
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032
NM_152419.3(HGSNAT):c.234+1G>A rs483352908
NM_152419.3(HGSNAT):c.372-2A>G rs483352896
NM_152419.3(HGSNAT):c.493+1G>A rs193066451
NM_152419.3(HGSNAT):c.525dup (p.Val176fs) rs483352895
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu) rs121908282
NM_152419.3(HGSNAT):c.962T>G (p.Leu321Ter) rs121908283

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.