ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Undiagnosed Diseases Network,NIH

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NM_000158.4(GBE1):c.2053-3358_2053-3350delinsTGTTTTTTACATGACAGGT rs869320698
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser) rs80338671
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) rs104894637
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) rs148881970
NM_000263.4(NAGLU):c.1915G>T (p.Glu639Ter) rs555145190
NM_000308.4(CTSA):c.1435C>G (p.Pro479Ala)
NM_000308.4(CTSA):c.497del (p.Glu166fs)
NM_004130.3(GYG1):c.143+3G>C rs370652040
NM_004130.3(GYG1):c.487del (p.Asp163fs) rs727502871
NM_152419.3(HGSNAT):c.1042G>A (p.Val348Met) rs1318217031
NM_152419.3(HGSNAT):c.1267G>T (p.Gly423Trp) rs1064795522
NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys)
NM_152419.3(HGSNAT):c.493+809T>C

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.