ClinVar Miner

List of variants reported as likely pathogenic for Glycogen storage disease due to glucose-6-phosphatase deficiency type IA by Baylor Genetics

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Total variants: 5
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NM_000151.4(G6PC1):c.14T>G (p.Met5Arg) rs1250172816
NM_000151.4(G6PC1):c.241G>A (p.Gly81Arg) rs756632286
NM_000151.4(G6PC1):c.370G>A (p.Ala124Thr) rs104894568
NM_000151.4(G6PC1):c.538C>T (p.Gln180Ter) rs1597990921
NM_000151.4(G6PC1):c.59A>G (p.Gln20Arg)

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