ClinVar Miner

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

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_002591.4(PCK1):c.925G>A (p.Gly309Arg) rs201186470 0.00113
NM_002591.4(PCK1):c.1268C>T (p.Pro423Leu) rs148603002 0.00007
NM_002591.4(PCK1):c.134T>C (p.Ile45Thr) rs202197769 0.00004
NM_002591.4(PCK1):c.961+1G>A rs776767788 0.00002
NM_002591.4(PCK1):c.574T>C (p.Cys192Arg)
PCK1, 12-BP DEL, NT369

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