ClinVar Miner

List of variants studied for disorder of glycogen metabolism by Mendelics

Included ClinVar conditions (52):
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ClinVar version:
Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_021957.4(GYS2):c.1087A>G (p.Met363Val) rs2306180 0.74398
NM_000152.5(GAA):c.1327-18A>G rs2278619 0.71811
NM_000158.4(GBE1):c.568A>G (p.Arg190Gly) rs2229519 0.29724
NM_000340.2(SLC2A2):c.329C>T (p.Thr110Ile) rs5400 0.23124
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val) rs113806080 0.00446
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519 0.00440
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927 0.00435
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006 0.00193
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175 0.00034
NM_000152.5(GAA):c.2395C>T (p.His799Tyr) rs143347747 0.00019
NM_000292.3(PHKA2):c.1493C>T (p.Pro498Leu) rs199792389 0.00011
NM_000158.4(GBE1):c.1544G>A (p.Arg515His) rs201958741 0.00005
NM_002637.4(PHKA1):c.3364G>C (p.Glu1122Gln) rs202007590 0.00005
NM_000151.4(G6PC1):c.508C>T (p.Arg170Ter) rs373345919 0.00003
NM_001164277.2(SLC37A4):c.446G>A (p.Gly149Glu) rs193302892 0.00003
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg) rs28937909 0.00002
NM_000151.4(G6PC1):c.355C>T (p.His119Tyr) rs1332616844 0.00001
NM_000158.4(GBE1):c.1064G>A (p.Arg355His) rs869312919 0.00001
NM_000294.3(PHKG2):c.22G>T (p.Glu8Ter) rs375063162 0.00001
NM_000294.3(PHKG2):c.835C>T (p.Arg279Cys) rs994896967 0.00001
NM_002863.5(PYGL):c.697G>A (p.Gly233Ser) rs749922511 0.00001
NM_005670.4(EPM2A):c.302-1G>C rs369463720 0.00001
NC_000001.10:g.100330092T>A rs794729208
NM_000151.4(G6PC1):c.511del (p.Ile171fs) rs1597990895
NM_000151.4(G6PC1):c.526C>T (p.His176Tyr) rs1597990906
NM_000151.4(G6PC1):c.563-3C>G rs1597991608
NM_000151.4(G6PC1):c.70C>T (p.Gln24Ter) rs2151929089
NM_000151.4(G6PC1):c.770C>A (p.Pro257His) rs1597991733
NM_000152.5(GAA):c.1106T>C (p.Leu369Pro) rs2039149745
NM_000152.5(GAA):c.2740dup (p.Gln914fs) rs745427943
NM_000158.4(GBE1):c.770T>C (p.Phe257Ser) rs1576183537
NM_000291.4(PGK1):c.1072G>A (p.Glu358Lys) rs1603398740
NM_000292.3(PHKA2):c.1138-2A>G rs1601748216
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.2735T>C (p.Met912Thr) rs1158193880
NM_000292.3(PHKA2):c.2785G>C (p.Ala929Pro) rs1324893950
NM_000292.3(PHKA2):c.314_317del (p.Thr105fs) rs1601776523
NM_000292.3(PHKA2):c.3383T>C (p.Leu1128Pro) rs797044921
NM_000292.3(PHKA2):c.3397C>T (p.Gln1133Ter) rs1601687244
NM_000292.3(PHKA2):c.395A>C (p.His132Pro) rs137852291
NM_000292.3(PHKA2):c.557G>C (p.Arg186Pro) rs137852290
NM_000292.3(PHKA2):c.883C>T (p.Arg295Cys) rs797045008
NM_000292.3(PHKA2):c.884G>T (p.Arg295Leu) rs797044877
NM_000292.3(PHKA2):c.919-1G>A rs2147954328
NM_000293.3(PHKB):c.1688C>A (p.Ser563Ter) rs1292721679
NM_000294.3(PHKG2):c.1070T>C (p.Leu357Pro) rs762089284
NM_000294.3(PHKG2):c.657del (p.Cys219fs) rs1596687555
NM_000294.3(PHKG2):c.927+1G>A rs1445993948
NM_000642.2(AGL):c.[1283G>A];[611T>A]
NM_000642.3(AGL):c.1734A>T (p.Arg578Ser) rs1570442236
NM_000642.3(AGL):c.1900-13T>A rs533280246
NM_000642.3(AGL):c.2083C>T (p.Gln695Ter) rs1570445130
NM_000642.3(AGL):c.2433+2T>C rs2100768436
NM_000642.3(AGL):c.2457_2460del (p.Gln820fs) rs1553187237
NM_000642.3(AGL):c.2950-1G>C rs1057516793
NM_000642.3(AGL):c.3492C>G (p.Tyr1164Ter) rs370202718
NM_000642.3(AGL):c.3636G>A (p.Met1212Ile) rs1570487362
NM_000642.3(AGL):c.3637C>T (p.Gln1213Ter) rs1570487381
NM_000642.3(AGL):c.4221del (p.Lys1407fs) rs786204655
NM_000642.3(AGL):c.576T>G (p.Tyr192Ter) rs1571232325
NM_000642.3(AGL):c.74_75del (p.Leu25fs) rs2101053661
NM_001164277.2(SLC37A4):c.1124+3_1124+6del rs782612223
NM_001164277.2(SLC37A4):c.703GTG[1] (p.Val236del) rs121908977
NM_002294.3(LAMP2):c.436_440dup (p.Leu147fs) rs2147283096
NM_002637.4(PHKA1):c.635T>G (p.Leu212Ter) rs2147781328
NM_002637.4(PHKA1):c.919-2A>G rs2147766482
NM_002863.5(PYGL):c.1404-1G>A rs750567664
NM_002863.5(PYGL):c.176C>A (p.Thr59Lys) rs150483902
NM_005609.4(PYGM):c.1732CTC[1] (p.Leu579del) rs1592409633
NM_005609.4(PYGM):c.2075_2076del (p.Thr692fs) rs1592408302
NM_031229.4(RBCK1):c.994_999del (p.Cys332_Ser333del) rs2122282189

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