ClinVar Miner

List of variants reported as likely pathogenic for Glycogen storage disease IXa1

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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_000292.3(PHKA2):c.4C>G (p.Arg2Gly) rs140014925 0.00005
NM_000292.3(PHKA2):c.2971G>A (p.Gly991Arg) rs750628677 0.00004
NM_000292.3(PHKA2):c.557G>A (p.Arg186His) rs137852290 0.00001
NM_000292.3(PHKA2):c.1042-1G>A rs2048391185
NM_000292.3(PHKA2):c.1137+2T>C rs2147946477
NM_000292.3(PHKA2):c.1245G>T (p.Glu415Asp) rs1601747985
NM_000292.3(PHKA2):c.128G>C (p.Trp43Ser) rs1556016365
NM_000292.3(PHKA2):c.1325-1G>A
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.147C>A (p.Tyr49Ter) rs768063119
NM_000292.3(PHKA2):c.1714+1G>A rs1556002344
NM_000292.3(PHKA2):c.2249G>A (p.Trp750Ter)
NM_000292.3(PHKA2):c.237+1G>T
NM_000292.3(PHKA2):c.2433dup (p.Gly812fs) rs1555995635
NM_000292.3(PHKA2):c.2518-1G>A rs2047834385
NM_000292.3(PHKA2):c.256C>T (p.Arg86Ter) rs2147991282
NM_000292.3(PHKA2):c.2597+1G>A rs1210626722
NM_000292.3(PHKA2):c.2746C>T (p.Arg916Trp) rs1569297427
NM_000292.3(PHKA2):c.285+2_285+5del rs2048714302
NM_000292.3(PHKA2):c.3112-2A>G
NM_000292.3(PHKA2):c.3210_3212del (p.Arg1072del) rs1555989523
NM_000292.3(PHKA2):c.3283-1G>C rs2047516641
NM_000292.3(PHKA2):c.3336+1dup rs2047514376
NM_000292.3(PHKA2):c.3336+2T>A rs1555988479
NM_000292.3(PHKA2):c.3341C>T (p.Thr1114Ile) rs137852293
NM_000292.3(PHKA2):c.3383T>C (p.Leu1128Pro) rs797044921
NM_000292.3(PHKA2):c.3629G>A (p.Gly1210Glu) rs1601685358
NM_000292.3(PHKA2):c.3644_3646dup (p.Leu1215_Thr1216insIle) rs2047467477
NM_000292.3(PHKA2):c.3645_3646dup (p.Thr1216fs) rs2147799052
NM_000292.3(PHKA2):c.405_419delinsTCCTGGCC (p.Asp136fs) rs1601776276
NM_000292.3(PHKA2):c.415T>C (p.Ser139Pro) rs1556014969
NM_000292.3(PHKA2):c.455-5_463del
NM_000292.3(PHKA2):c.556C>T (p.Arg186Cys) rs137852294
NM_000292.3(PHKA2):c.557G>C (p.Arg186Pro) rs137852290
NM_000292.3(PHKA2):c.559G>A (p.Gly187Arg) rs2147972085
NM_000292.3(PHKA2):c.565A>G (p.Lys189Glu) rs137852295
NM_000292.3(PHKA2):c.717+1G>A
NM_000292.3(PHKA2):c.79-2A>T
NM_000292.3(PHKA2):c.884G>A (p.Arg295His) rs797044877
NM_000292.3(PHKA2):c.884G>T (p.Arg295Leu) rs797044877
NM_000292.3(PHKA2):c.892C>T (p.Arg298Ter)
NM_000292.3(PHKA2):c.919-1G>A rs2147954328
NM_000292.3(PHKA2):c.919-2A>G rs2147954334

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