List of variants studied for Glycogen storage disease due to glucose-6-phosphatase deficiency type IA by 3billion

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Total variants: 5

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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.500G>A (p.Cys167Tyr)	rs777552825	0.00001
NM_000151.4(G6PC1):c.310C>T (p.Gln104Ter)	rs2056043532
NM_000151.4(G6PC1):c.796G>A (p.Gly266Ser)	rs2151932313

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