List of variants reported as likely pathogenic for Glycogen storage disease IXd by Fulgent Genetics, Fulgent Genetics

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_002637.4(PHKA1):c.1174C>T (p.Arg392Ter)	rs1556299510	0.00001
NM_002637.4(PHKA1):c.1345_1346del (p.Glu449fs)	rs2147747770
NM_002637.4(PHKA1):c.1960+1G>T
NM_002637.4(PHKA1):c.2137+1G>A
NM_002637.4(PHKA1):c.3134C>A (p.Ser1045Ter)
NM_002637.4(PHKA1):c.389G>A (p.Trp130Ter)

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