List of variants in gene G6PC1 reported as not provided for Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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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.648G>T (p.Leu216=)	rs80356484	0.00002
NM_000151.4(G6PC1):c.248G>A (p.Arg83His)	rs1801176	0.00001
NM_000151.4(G6PC1):c.379_380dup (p.Tyr128fs)	rs80356488
NM_000151.4(G6PC1):c.665G>A (p.Gly222Glu)	rs515726229
NM_000151.4(G6PC1):c.79del (p.Gln27fs)	rs80356479

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