ClinVar Miner

List of variants studied for Glycogen storage disease due to glucose-6-phosphatase deficiency type IA by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000151.4(G6PC1):c.352G>C (p.Gly118Arg)
NM_000151.4(G6PC1):c.575C>T (p.Ala192Val)
NM_000151.4(G6PC1):c.59A>G (p.Gln20Arg)	rs2056021410

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