ClinVar Miner

List of variants reported as benign for Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP
NM_152419.3(HGSNAT):c.1250+7G>A rs74795999
NM_152419.3(HGSNAT):c.1250C>T (p.Thr417Ile) rs200750044
NM_152419.3(HGSNAT):c.1272C>T (p.Gly424=) rs147251143
NM_152419.3(HGSNAT):c.1377+20G>A rs17603428
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln) rs73569592
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg) rs148632988
NM_152419.3(HGSNAT):c.1727-9C>G rs76750342
NM_152419.3(HGSNAT):c.1749T>C (p.Tyr583=) rs1126058
NM_152419.3(HGSNAT):c.1840G>A (p.Val614Ile) rs73675469
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032
NM_152419.3(HGSNAT):c.204C>T (p.Thr68=) rs199816365
NM_152419.3(HGSNAT):c.234+14C>G rs146429523
NM_152419.3(HGSNAT):c.493+13T>A
NM_152419.3(HGSNAT):c.564-4dup
NM_152419.3(HGSNAT):c.63G>A (p.Ala21=)
NM_152419.3(HGSNAT):c.680A>T (p.Gln227Leu) rs200505085
NM_152419.3(HGSNAT):c.689C>T (p.Thr230Met) rs200416815
NM_152419.3(HGSNAT):c.828A>G (p.Thr276=) rs182393180

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.