List of variants reported as pathogenic for Glycogen storage disease due to glucose-6-phosphatase deficiency type IA by National Center for Biotechnology Information, National Institutes of Health

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val)	rs80356483	0.00002
NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter)	rs80356485	0.00001
NM_000151.4(G6PC1):c.379_380dup (p.Tyr128fs)	rs80356488
NM_000151.4(G6PC1):c.980_982del (p.Phe327del)	rs80356486

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