List of variants reported as pathogenic for Glycogen storage disease IXc by Centre for Human Genetics

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000294.3(PHKG2):c.643G>A (p.Asp215Asn)	rs767427889	0.00001
NM_000294.3(PHKG2):c.229G>A (p.Glu77Lys)	rs2053339231
NM_000294.3(PHKG2):c.317T>A (p.Val106Glu)	rs137853589
NM_000294.3(PHKG2):c.539del (p.Pro180fs)	rs2053379013

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