ClinVar Miner

List of variants reported as pathogenic for carbohydrate metabolism disease by Medical Molecular Genetics Department, National Research Center

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
NM_000046.5(ARSB):c.152T>C (p.Leu51Pro) rs1554032220
NM_000046.5(ARSB):c.189_190insA (p.Gly64fs) rs1554032196
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg) rs749465732
NM_000046.5(ARSB):c.257del (p.Tyr86fs) rs1554032122
NM_000046.5(ARSB):c.281C>T (p.Ser94Leu) rs1554032099
NM_000046.5(ARSB):c.288C>G (p.Ser96Arg) rs1554032095
NM_000046.5(ARSB):c.478C>T (p.Arg160Ter) rs1255777033
NM_000046.5(ARSB):c.479G>A (p.Arg160Gln) rs1196325597
NM_000152.5(GAA):c.1193T>C (p.Leu398Pro) rs1598577666
NM_000152.5(GAA):c.1431del (p.Ile477fs) rs1598580364
NM_000152.5(GAA):c.2434G>A (p.Asp812Asn)

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.