ClinVar Miner

List of variants studied for oligosaccharidosis by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591 0.00188
NM_000147.5(FUCA1):c.768+1G>A rs1639468949
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680

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.