List of variants reported as pathogenic for Glycogen storage disease due to glucose-6-phosphatase deficiency type IA by Illumina Laboratory Services, Illumina

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Show significances as they were submitted (without aggregation into standard terms)

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)	rs1801175	0.00034
NM_000151.4(G6PC1):c.648G>T (p.Leu216=)	rs80356484	0.00002
NM_000151.4(G6PC1):c.379_380dup (p.Tyr128fs)	rs80356488
NM_000151.4(G6PC1):c.79del (p.Gln27fs)	rs80356479

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