ClinVar Miner

List of variants in gene PCK1 reported as likely benign for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP
NM_002591.4(PCK1):c.*349_*350AT[4] rs201179319
NM_002591.4(PCK1):c.*408T>G
NM_002591.4(PCK1):c.*51G>C rs6025630
NM_002591.4(PCK1):c.1735A>C (p.Ser579Arg) rs34103538
NM_002591.4(PCK1):c.179T>C (p.Met60Thr) rs28383586
NM_002591.4(PCK1):c.413C>T (p.Thr138Ile) rs28359542
NM_002591.4(PCK1):c.7C>T (p.Pro3Ser) rs147120329
NM_002591.4(PCK1):c.843G>A (p.Ala281=) rs28359546
NM_002591.4(PCK1):c.864C>T (p.Cys288=) rs61760966

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.