ClinVar Miner

List of variants in gene PHKA2 reported as pathogenic for Glycogen storage disease IXa1

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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_000292.3(PHKA2):c.4C>G (p.Arg2Gly) rs140014925 0.00005
NC_000023.10:g.(?_18925998)_(18929098_?)del
NC_000023.11:g.(?_18920012)_(18920221_?)del
NC_000023.11:g.(?_18929208)_(18983952_?)del
NM_000292.3(PHKA2):c.-9_2del (p.Met1fs) rs1569344469
NM_000292.3(PHKA2):c.1054C>T (p.Arg352Ter) rs1556007472
NM_000292.3(PHKA2):c.1138-2A>G rs1601748216
NM_000292.3(PHKA2):c.1174C>T (p.Arg392Ter)
NM_000292.3(PHKA2):c.1205G>A (p.Trp402Ter) rs2048317403
NM_000292.3(PHKA2):c.1210C>T (p.Gln404Ter) rs2147934341
NM_000292.3(PHKA2):c.1324+1G>A rs1289077489
NM_000292.3(PHKA2):c.133C>T (p.Arg45Trp) rs1601781031
NM_000292.3(PHKA2):c.134G>A (p.Arg45Gln) rs1601781024
NM_000292.3(PHKA2):c.1420C>T (p.Gln474Ter)
NM_000292.3(PHKA2):c.1502del (p.His501fs)
NM_000292.3(PHKA2):c.1546C>T (p.Gln516Ter) rs1601739229
NM_000292.3(PHKA2):c.1661G>A (p.Trp554Ter)
NM_000292.3(PHKA2):c.1794-8_1812del rs1556000892
NM_000292.3(PHKA2):c.1969C>T (p.Gln657Ter)
NM_000292.3(PHKA2):c.1A>G (p.Met1Val) rs2148058081
NM_000292.3(PHKA2):c.2209C>T (p.Gln737Ter) rs1569300538
NM_000292.3(PHKA2):c.2268dup (p.Asp757Ter) rs1601714299
NM_000292.3(PHKA2):c.2296C>T (p.Gln766Ter) rs137852286
NM_000292.3(PHKA2):c.235C>T (p.Gln79Ter) rs1601780766
NM_000292.3(PHKA2):c.2378_2379del (p.Thr793fs) rs2147859879
NM_000292.3(PHKA2):c.2465del (p.Leu822fs) rs1569298646
NM_000292.3(PHKA2):c.2509_2510insATGTATAAATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTATATTATAATAAAAAAAAAAAAAAAAAAATAACAATAAAATGAGATAAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAGTGGAGGTCC (p.Leu837delinsHisValTer) rs2147859144
NM_000292.3(PHKA2):c.2614G>T (p.Glu872Ter) rs2147855177
NM_000292.3(PHKA2):c.2735T>C (p.Met912Thr) rs1158193880
NM_000292.3(PHKA2):c.2746C>T (p.Arg916Trp) rs1569297427
NM_000292.3(PHKA2):c.2772_2782del (p.Met924fs) rs1569297379
NM_000292.3(PHKA2):c.2783_2793del (p.Leu928fs)
NM_000292.3(PHKA2):c.2785G>C (p.Ala929Pro) rs1324893950
NM_000292.3(PHKA2):c.3025C>T (p.Gln1009Ter) rs137852285
NM_000292.3(PHKA2):c.3146C>A (p.Ser1049Ter) rs137852287
NM_000292.3(PHKA2):c.314_317del (p.Thr105fs) rs1601776523
NM_000292.3(PHKA2):c.3210_3212del (p.Arg1072del) rs1555989523
NM_000292.3(PHKA2):c.3325del (p.Thr1109fs) rs2147806873
NM_000292.3(PHKA2):c.3329_3336+6del
NM_000292.3(PHKA2):c.3331C>T (p.Arg1111Ter) rs1601689006
NM_000292.3(PHKA2):c.3371_3377dup (p.Val1127fs) rs2047492720
NM_000292.3(PHKA2):c.3377C>A (p.Ser1126Ter) rs2047492649
NM_000292.3(PHKA2):c.3397C>T (p.Gln1133Ter) rs1601687244
NM_000292.3(PHKA2):c.3424_3425insT (p.Glu1142fs) rs2047490848
NM_000292.3(PHKA2):c.3529C>T (p.Gln1177Ter) rs2047487518
NM_000292.3(PHKA2):c.3614C>T (p.Pro1205Leu) rs137852288
NM_000292.3(PHKA2):c.3629G>A (p.Gly1210Glu) rs1601685358
NM_000292.3(PHKA2):c.394C>T (p.His132Tyr) rs137852292
NM_000292.3(PHKA2):c.395A>C (p.His132Pro) rs137852291
NM_000292.3(PHKA2):c.421_423del (p.Phe141del) rs587776732
NM_000292.3(PHKA2):c.584del (p.Pro195fs)
NM_000292.3(PHKA2):c.717+1G>T rs587776731
NM_000292.3(PHKA2):c.718-2A>G rs1601763099
NM_000292.3(PHKA2):c.883C>T (p.Arg295Cys) rs797045008
NM_000292.3(PHKA2):c.884G>A (p.Arg295His) rs797044877
NM_000292.3(PHKA2):c.896A>G (p.Asp299Gly) rs137852289
NM_000292.3(PHKA2):c.918+1G>A rs1601760689
NM_000292.3(PHKA2):c.93del (p.Leu32fs) rs2048744617

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