ClinVar Miner

List of variants reported as pathogenic for Glycogen storage disease due to glucose-6-phosphatase deficiency type IA by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 2
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NM_000151.4(G6PC1):c.150_151del (p.Trp50fs) rs1057516674
NM_000151.4(G6PC1):c.388_400del (p.Met130fs) rs1567705064

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