ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Molecular Diagnostics Laboratory,Seoul National University Hospital

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
NM_000292.3(PHKA2):c.1245G>T (p.Glu415Asp) rs1601747985
NM_000292.3(PHKA2):c.2268dup (p.Asp757Ter) rs1601714299
NM_000292.3(PHKA2):c.3628G>A (p.Gly1210Arg) rs1601685360
NM_000292.3(PHKA2):c.405_419delinsTCCTGGCC (p.Asp136fs) rs1601776276
NM_000292.3(PHKA2):c.718-2A>G rs1601763099
NM_000292.3(PHKA2):c.918+1G>A rs1601760689
NM_000294.3(PHKG2):c.661G>A (p.Val221Met) rs1596687577
NM_000294.3(PHKG2):c.783del (p.Ser262fs) rs1372753669

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.