ClinVar Miner

List of variants studied for Glycogen phosphorylase kinase deficiency

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_000293.3(PHKB):c.*1001del rs775113534 0.03023
NM_000294.3(PHKG2):c.83A>T (p.Asp28Val) rs777228104 0.00009
NM_000293.3(PHKB):c.2326C>T (p.Gln776Ter) rs149244943 0.00008
NM_000294.3(PHKG2):c.-70C>T rs879456688 0.00006
NM_000292.3(PHKA2):c.2137+5G>A rs372314504 0.00005
NM_000292.3(PHKA2):c.4C>G (p.Arg2Gly) rs140014925 0.00005
NM_000293.3(PHKB):c.2427+965A>C rs761645932 0.00004
NM_001014979.3(CFAP119):c.818-578G>A rs371856479 0.00004
NM_000293.3(PHKB):c.204C>T (p.Thr68=) rs759882590 0.00003
NM_002637.4(PHKA1):c.2606+1G>A rs373517016 0.00003
NM_001014979.3(CFAP119):c.829G>A (p.Val277Ile) rs768683366 0.00002
NM_000292.3(PHKA2):c.2606C>G (p.Pro869Arg) rs777137574 0.00001
NM_000293.3(PHKB):c.306-2A>G rs797044442 0.00001
NM_000293.3(PHKB):c.307C>T (p.Arg103Ter) rs145166656 0.00001
NM_000293.3(PHKB):c.77-7del rs754758968 0.00001
NM_001014979.3(CFAP119):c.512C>T (p.Thr171Ile) rs886051920 0.00001
NM_001014979.3(CFAP119):c.658-4C>T rs886051918 0.00001
NM_002637.4(PHKA1):c.2527-1G>T rs1556257317 0.00001
NC_000016.9:g.(47495338_47531309)_(47545684_47549431)del
NC_000016.9:g.(47495338_47531309)_(47581460_47614205)del
NC_000016.9:g.(47623014_47627410)_(47630443_47644736)del
NC_000023.10:g.71800926_(71804153_71812953)del
NM_000292.3(PHKA2):c.3058-1G>A rs751364453
NM_000293.3(PHKB):c.*1000del rs11299370
NM_000293.3(PHKB):c.*1311dup rs886052031
NM_000293.3(PHKB):c.*358_*360del rs886052026
NM_000293.3(PHKB):c.*610TA[1] rs201839105
NM_000293.3(PHKB):c.*982del rs886052029
NM_000293.3(PHKB):c.2453AAG[2] (p.Glu820del) rs532057230
NM_000293.3(PHKB):c.2623C>T (p.Arg875Ter)
NM_000293.3(PHKB):c.2839C>T (p.Gln947Ter)
NM_000293.3(PHKB):c.3144+12_3144+13insT rs757614728
NM_000293.3(PHKB):c.3144+12dup rs1555500966
NM_000293.3(PHKB):c.3144+32_3144+34dup rs5816579
NM_000293.3(PHKB):c.3144+34dup rs5816579
NM_000293.3(PHKB):c.76+1G>C
NM_000294.3(PHKG2):c.*211C>T rs886051915
NM_000294.3(PHKG2):c.556+4_556+5dup rs767789467
NM_000294.3(PHKG2):c.925C>T (p.Arg309Trp)
NM_001014979.3(CFAP119):c.236+113A>G rs886051922
NM_001014979.3(CFAP119):c.236+222T>C rs886051921
NM_001014979.3(CFAP119):c.540+18A>G rs886051919
NM_001014979.3(CFAP119):c.818-289T>C rs886051917
NM_001014979.3(CFAP119):c.818-33C>T rs886051916
NM_002637.4(PHKA1):c.*1241GT[11] rs111688568
NM_002637.4(PHKA1):c.*1241GT[13] rs111688568
NM_002637.4(PHKA1):c.*1241GT[14] rs111688568
NM_002637.4(PHKA1):c.*625CT[2] rs3070316
NM_002637.4(PHKA1):c.3244-155_3618del
NM_002637.4(PHKA1):c.892C>T (p.Arg298Ter) rs1256371424

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