ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Victorian Clinical Genetics Services,Murdoch Childrens Research Institute

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
Download table as spreadsheet
GRCh37/hg19 6p21.33(chr6:31824828-31834398)
NM_000030.3(AGXT):c.364C>T (p.Arg122Ter) rs180177210
NM_001352514.2(HLCS):c.1163G>C (p.Gly388Ala) rs1057516035

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.