ClinVar Miner

List of variants in gene PCK1 reported as benign for Phosphoenolpyruvate carboxykinase deficiency, cytosolic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002591.4(PCK1):c.550G>C (p.Val184Leu) rs707555 0.89165
NM_002591.4(PCK1):c.1140T>C (p.Gly380=) rs2070756 0.79829
NM_002591.4(PCK1):c.611-44G>C rs2070755 0.46851
NM_002591.4(PCK1):c.*120T>G rs1042531 0.45356
NM_002591.4(PCK1):c.69A>G (p.Leu23=) rs1042521 0.43803
NM_002591.4(PCK1):c.489A>G (p.Ser163=) rs1062601 0.42887
NM_002591.4(PCK1):c.462A>G (p.Ser154=) rs1042523 0.42809
NM_002591.4(PCK1):c.453G>A (p.Ser151=) rs1062600 0.39601
NM_002591.4(PCK1):c.282C>T (p.Ile94=) rs6070157 0.17400
NM_002591.4(PCK1):c.826G>A (p.Glu276Lys) rs11552145 0.14626
NM_002591.4(PCK1):c.799A>G (p.Ile267Val) rs8192708 0.09315
NM_002591.4(PCK1):c.*431T>C rs28359554 0.08366
NM_002591.4(PCK1):c.873C>T (p.Thr291=) rs28359547 0.04342
NM_002591.4(PCK1):c.1102G>A (p.Val368Ile) rs1804160 0.02728
NM_002591.4(PCK1):c.705C>T (p.Tyr235=) rs28359544 0.02719
NM_002591.4(PCK1):c.*359G>A rs3211338 0.00897
NM_002591.4(PCK1):c.12G>A (p.Gln4=) rs28383584 0.00679
NM_002591.4(PCK1):c.1674C>T (p.Ile558=) rs115841045

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.