ClinVar Miner

List of variants in gene PCK1 reported as likely benign by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_002591.4(PCK1):c.1735A>C (p.Ser579Arg) rs34103538 0.00913
NM_002591.4(PCK1):c.864C>T (p.Cys288=) rs61760966 0.00283
NM_002591.4(PCK1):c.179T>C (p.Met60Thr) rs28383586 0.00278
NM_002591.4(PCK1):c.843G>A (p.Ala281=) rs28359546 0.00208
NM_002591.4(PCK1):c.413C>T (p.Thr138Ile) rs28359542 0.00175
NM_002591.4(PCK1):c.*408T>G rs139159526 0.00121
NM_002591.4(PCK1):c.7C>T (p.Pro3Ser) rs147120329 0.00091
NM_002591.4(PCK1):c.*349AT[4] rs201179319
NM_002591.4(PCK1):c.*51G>C rs6025630

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