ClinVar Miner

List of variants reported as pathogenic for Glycogen storage disease IXc

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_000294.3(PHKG2):c.96-11G>A rs751600886 0.00006
NM_000294.3(PHKG2):c.226C>T (p.Arg76Ter) rs1450937339 0.00001
NM_000294.3(PHKG2):c.22G>T (p.Glu8Ter) rs375063162 0.00001
NM_000294.3(PHKG2):c.431T>C (p.Leu144Pro) rs1567261889 0.00001
NM_000294.3(PHKG2):c.433C>T (p.His145Tyr) rs137853591 0.00001
NM_000294.3(PHKG2):c.502C>T (p.Arg168Ter) rs778952896 0.00001
NM_000294.3(PHKG2):c.553C>T (p.Arg185Ter) rs1270523244 0.00001
NM_000294.3(PHKG2):c.643G>A (p.Asp215Asn) rs767427889 0.00001
NM_000294.3(PHKG2):c.958C>T (p.Arg320Ter) rs560414449 0.00001
NC_000016.9:g.(?_30760142)_(30768418_?)del
NC_000016.9:g.(?_30762850)_(30762944_?)del
NM_000294.3(PHKG2):c.130C>T (p.Arg44Ter) rs137853590
NM_000294.3(PHKG2):c.229G>A (p.Glu77Lys) rs2053339231
NM_000294.3(PHKG2):c.250del (p.Val84fs) rs1567260747
NM_000294.3(PHKG2):c.265dup (p.His89fs)
NM_000294.3(PHKG2):c.277del (p.Leu93fs) rs1596680941
NM_000294.3(PHKG2):c.317T>A (p.Val106Glu) rs137853589
NM_000294.3(PHKG2):c.318_319del (p.Val106_Phe107insTer) rs1555467052
NM_000294.3(PHKG2):c.334_337del (p.Lys112fs)
NM_000294.3(PHKG2):c.385G>T (p.Glu129Ter)
NM_000294.3(PHKG2):c.454C>T (p.Arg152Ter) rs772912966
NM_000294.3(PHKG2):c.539del (p.Pro180fs) rs2053379013
NM_000294.3(PHKG2):c.53_54del (p.Lys18fs)
NM_000294.3(PHKG2):c.557-1_557delinsAG rs2151310104
NM_000294.3(PHKG2):c.566G>A (p.Gly189Glu) rs137853588
NM_000294.3(PHKG2):c.648-2_648del
NM_000294.3(PHKG2):c.657del (p.Cys219fs) rs1596687555
NM_000294.3(PHKG2):c.671_672delinsAA (p.Phe224Ter) rs1555467557
NM_000294.3(PHKG2):c.677T>G (p.Leu226Arg) rs137853592
NM_000294.3(PHKG2):c.72C>A (p.Tyr24Ter)
NM_000294.3(PHKG2):c.745C>T (p.Gln249Ter) rs2053428286
NM_000294.3(PHKG2):c.767del (p.Glu256fs)
NM_000294.3(PHKG2):c.783del (p.Ser262fs) rs1372753669
NM_000294.3(PHKG2):c.800_801+34del rs2151310413
NM_000294.3(PHKG2):c.802-2A>C
NM_000294.3(PHKG2):c.827del (p.Pro276fs)
NM_000294.3(PHKG2):c.850C>T (p.Gln284Ter)
NM_000294.3(PHKG2):c.900G>A (p.Trp300Ter)
NM_000294.3(PHKG2):c.905_909del (p.Leu302fs)
NM_000294.3(PHKG2):c.927+1G>A rs1445993948

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