List of variants in gene PHKG2 reported as likely pathogenic for Glycogen storage disease IXc

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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: 10

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HGVS	dbSNP	gnomAD frequency
NM_000294.3(PHKG2):c.469G>A (p.Glu157Lys)	rs752961445	0.00001
NM_000294.3(PHKG2):c.643G>A (p.Asp215Asn)	rs767427889	0.00001
NM_000294.3(PHKG2):c.835C>T (p.Arg279Cys)	rs994896967	0.00001
NM_000294.3(PHKG2):c.1070T>C (p.Leu357Pro)	rs762089284
NM_000294.3(PHKG2):c.166del (p.Glu56fs)
NM_000294.3(PHKG2):c.229G>A (p.Glu77Lys)	rs2053339231
NM_000294.3(PHKG2):c.392+2T>G
NM_000294.3(PHKG2):c.393-2A>G
NM_000294.3(PHKG2):c.661G>A (p.Val221Met)	rs1596687577
NM_000294.3(PHKG2):c.925C>T (p.Arg309Trp)

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