ClinVar Miner

List of variants reported as pathogenic for carbohydrate metabolism disease by Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_000202.8(IDS):c.1006+1G>A
NM_000202.8(IDS):c.104-2A>C
NM_000202.8(IDS):c.1047C>A (p.Ser349Arg)
NM_000202.8(IDS):c.1181-1G>C
NM_000202.8(IDS):c.1264T>C (p.Cys422Arg) rs199422229
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter) rs199422227
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp) rs199422231
NM_000202.8(IDS):c.1403G>A (p.Arg468Gln) rs113993946
NM_000202.8(IDS):c.1425G>A (p.Trp475Ter) rs199422230
NM_000202.8(IDS):c.162T>A (p.Tyr54Ter)
NM_000202.8(IDS):c.196C>T (p.Gln66Ter) rs1557340403
NM_000202.8(IDS):c.223C>T (p.Gln75Ter)
NM_000202.8(IDS):c.252C>G (p.Cys84Trp)
NM_000202.8(IDS):c.253G>A (p.Ala85Thr) rs113993949
NM_000202.8(IDS):c.257C>G (p.Pro86Arg)
NM_000202.8(IDS):c.262C>T (p.Arg88Cys) rs398123249
NM_000202.8(IDS):c.263G>A (p.Arg88His)
NM_000202.8(IDS):c.419-2A>G
NM_000202.8(IDS):c.514C>T (p.Arg172Ter) rs104894860
NM_000202.8(IDS):c.683C>T (p.Pro228Leu)
NM_000202.8(IDS):c.709-1G>A
NM_000202.8(IDS):c.998C>T (p.Ser333Leu) rs104894853
NM_001040716.2(PC):c.2668G>T (p.Val890Phe) rs1555014957

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.