ClinVar Miner

List of variants reported as likely pathogenic for Glycogen storage disease due to glucose-6-phosphatase deficiency type IA by Centogene AG - the Rare Disease Company

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NC_000017.11:g.42910915_42911427del	rs2056090806
NM_000151.4(G6PC1):c.61del (p.Gln20_Val21insTer)	rs2056021430

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