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
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NM_002591.4(PCK1):c.*349_*350AT[4] rs201179319
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

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