ClinVar Miner

List of variants reported as uncertain significance for carbohydrate metabolism disease by Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital

Included ClinVar conditions (304):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.1551+5G>A rs2039217485
NM_000152.5(GAA):c.2189+5_2189+8del rs2039293139
NM_003477.3(PDHX):c.1061G>A (p.Gly354Asp) rs200189510

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.