List of variants reported as pathogenic for glycogen storage disease IXa1 by Mendelics

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000292.3(PHKA2):c.1138-2A>G	rs1601748216
NM_000292.3(PHKA2):c.1210C>T (p.Gln404Ter)	rs2147934341
NM_000292.3(PHKA2):c.1324+1G>A	rs1289077489
NM_000292.3(PHKA2):c.2735T>C (p.Met912Thr)	rs1158193880
NM_000292.3(PHKA2):c.2785G>C (p.Ala929Pro)	rs1324893950
NM_000292.3(PHKA2):c.314_317del (p.Thr105fs)	rs1601776523
NM_000292.3(PHKA2):c.3397C>T (p.Gln1133Ter)	rs1601687244
NM_000292.3(PHKA2):c.395A>C (p.His132Pro)	rs137852291
NM_000292.3(PHKA2):c.883C>T (p.Arg295Cys)	rs797045008

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