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

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Total variants: 13

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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.1039C>T (p.Gln347Ter)	rs80356487	0.00026
NM_000151.4(G6PC1):c.562G>C (p.Gly188Arg)	rs80356482	0.00003
NM_000151.4(G6PC1):c.14T>G (p.Met5Arg)	rs1250172816	0.00002
NM_000151.4(G6PC1):c.509G>A (p.Arg170Gln)	rs750470654	0.00002
NM_000151.4(G6PC1):c.648G>T (p.Leu216=)	rs80356484	0.00002
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val)	rs80356483	0.00002
NM_000151.4(G6PC1):c.209G>A (p.Trp70Ter)	rs1567702823	0.00001
NM_000151.4(G6PC1):c.248G>A (p.Arg83His)	rs1801176	0.00001
NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe)	rs367727229
NM_000151.4(G6PC1):c.379_380dup (p.Tyr128fs)	rs80356488
NM_000151.4(G6PC1):c.742_745del (p.Pro248fs)
NM_000151.4(G6PC1):c.79del (p.Gln27fs)	rs80356479

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