ClinVar Miner

List of variants studied for Glycogen storage disease due to glucose-6-phosphatase deficiency type IA by Juno Genomics, Hangzhou Juno Genomics, Inc

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000151.4(G6PC1):c.365G>A (p.Gly122Asp)	rs759982943	0.00002
NM_000151.4(G6PC1):c.648G>T (p.Leu216=)	rs80356484	0.00002
NM_000151.4(G6PC1):c.248G>A (p.Arg83His)	rs1801176	0.00001

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