ClinVar Miner

List of variants reported as pathogenic for glycogen storage disease IXa1 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
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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.1174C>T (p.Arg392Ter)
NM_000292.3(PHKA2):c.1205G>A (p.Trp402Ter) rs2048317403
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.1489C>T (p.Arg497Ter)
NM_000292.3(PHKA2):c.1502del (p.His501fs)
NM_000292.3(PHKA2):c.1546C>T (p.Gln516Ter) rs1601739229
NM_000292.3(PHKA2):c.1794-8_1812del rs1556000892
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.2378_2379del (p.Thr793fs) rs2147859879
NM_000292.3(PHKA2):c.2465del (p.Leu822fs) rs1569298646
NM_000292.3(PHKA2):c.2470C>T (p.Arg824Cys) rs2047851598
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.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.3029dup (p.Met1010fs)
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.3341C>T (p.Thr1114Ile) rs137852293
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.3424_3425insT (p.Glu1142fs) rs2047490848
NM_000292.3(PHKA2):c.3614C>T (p.Pro1205Leu) rs137852288
NM_000292.3(PHKA2):c.584del (p.Pro195fs)
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.892C>T (p.Arg298Ter)
NM_000292.3(PHKA2):c.893G>C (p.Arg298Pro) rs1359540820
NM_000292.3(PHKA2):c.918+1G>A rs1601760689
NM_000292.3(PHKA2):c.93del (p.Leu32fs) rs2048744617

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