ClinVar Miner

List of variants reported as benign for carbohydrate metabolism disease by DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
NM_000027.4(AGA):c.281+13T>G rs34241758
NM_000027.4(AGA):c.446C>G (p.Thr149Ser) rs2228119
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile) rs9894254
NM_000199.5(SGSH):c.1367G>A (p.Arg456His) rs7503034
NM_000199.5(SGSH):c.663+17T>C rs6565647
NM_000263.4(NAGLU):c.423T>C (p.Ser141=) rs659497
NM_000512.5(GALNS):c.1431G>A (p.Glu477=) rs2303271
NM_000512.5(GALNS):c.634-20C>T rs17603837
NM_001931.4(DLAT):c.381+22delT rs5794771
NM_002076.4(GNS):c.198G>A (p.Pro66=) rs1147096
NM_002076.4(GNS):c.253-10del rs201654719
NM_152419.3(HGSNAT):c.1377+20G>A rs17603428

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.