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

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000294.3(PHKG2):c.96-11G>A	rs751600886	0.00006
NM_000294.3(PHKG2):c.393-2A>G	rs1452140139	0.00001
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.925C>T (p.Arg309Trp)	rs760257918	0.00001
NM_000294.3(PHKG2):c.958C>T (p.Arg320Ter)	rs560414449	0.00001
NM_000294.3(PHKG2):c.1070T>C (p.Leu357Pro)	rs762089284
NM_000294.3(PHKG2):c.166del (p.Glu56fs)	rs2543456237
NM_000294.3(PHKG2):c.229G>A (p.Glu77Lys)	rs2053339231
NM_000294.3(PHKG2):c.334_337del (p.Lys112fs)	rs1567261757
NM_000294.3(PHKG2):c.392+2T>G	rs2543462043
NM_000294.3(PHKG2):c.661G>A (p.Val221Met)	rs1596687577
NM_000294.3(PHKG2):c.800_801+34del	rs2151310413
NM_000294.3(PHKG2):c.976del (p.His326fs)

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