ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Mendelics

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 161
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HGVS dbSNP
NC_000001.10:g.100330092T>A rs794729208
NM_000027.4(AGA):c.446C>G (p.Thr149Ser) rs2228119
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527
NM_000030.3(AGXT):c.107G>A (p.Arg36His) rs180177162
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn) rs115014558
NM_000030.3(AGXT):c.33dup (p.Lys12fs) rs180177201
NM_000030.3(AGXT):c.683AGA[1] (p.Lys229del) rs1553648979
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448
NM_000108.5(DLD):c.439-7T>C rs10263341
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175
NM_000151.4(G6PC1):c.508C>T (p.Arg170Ter) rs373345919
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.770C>A (p.Pro257His) rs1597991733
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000152.5(GAA):c.1327-18A>G rs2278619
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg) rs28937909
NM_000152.5(GAA):c.2395C>T (p.His799Tyr) rs143347747
NM_000154.2(GALK1):c.-22T>C rs545362817
NM_000154.2(GALK1):c.410G>A (p.Gly137Asp) rs915070690
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) rs80084721
NM_000154.2(GALK1):c.863C>T (p.Thr288Met) rs759284637
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.4(GALT):c.100T>A (p.Tyr34Asn) rs111033836
NM_000155.4(GALT):c.134C>A (p.Ser45Ter) rs111033652
NM_000155.4(GALT):c.2T>C (p.Met1Thr) rs771702963
NM_000155.4(GALT):c.378-27G>C rs41274865
NM_000155.4(GALT):c.508-24G>A rs41274867
NM_000155.4(GALT):c.820+13A>G rs111033768
NM_000155.4(GALT):c.856_864del (p.Tyr286_Asn288del) rs1587240095
NM_000155.4(GALT):c.864C>T (p.Asn288=) rs372134800
NM_000155.4(GALT):c.895G>A (p.Gly299Ser) rs1587240180
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000155.4(GALT):c.997C>G (p.Arg333Gly) rs111033800
NM_000158.4(GBE1):c.568A>G (p.Arg190Gly) rs2229519
NM_000158.4(GBE1):c.770T>C (p.Phe257Ser) rs1576183537
NM_000181.4(GUSB):c.1506C>A (p.Asn502Lys) rs1159683641
NM_000181.4(GUSB):c.366G>C (p.Arg122Ser) rs1583946993
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn) rs149606212
NM_000202.8(IDS):c.418+34G>T rs1463289439
NM_000202.8(IDS):c.442G>T (p.Asp148Tyr) rs1602745838
NM_000202.8(IDS):c.925A>G (p.Thr309Ala) rs145807417
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801
NM_000203.5(IDUA):c.1250C>A (p.Thr417Lys) rs1464048268
NM_000203.5(IDUA):c.245A>C (p.His82Pro) rs794727239
NM_000203.5(IDUA):c.246C>G (p.His82Gln) rs148775298
NM_000203.5(IDUA):c.299+6C>T rs147498923
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) rs794726878
NM_000263.4(NAGLU):c.1004A>C (p.Tyr335Ser) rs768918822
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp) rs104894597
NM_000263.4(NAGLU):c.245G>A (p.Gly82Asp) rs1599253815
NM_000263.4(NAGLU):c.700C>T (p.Arg234Cys) rs104894601
NM_000263.4(NAGLU):c.911G>T (p.Gly304Val) rs1599258487
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595
NM_000284.4(PDHA1):c.16G>A (p.Ala6Thr) rs768396832
NM_000284.4(PDHA1):c.422G>A (p.Arg141Gln) rs794729213
NM_000284.4(PDHA1):c.822_826dup (p.Gly276fs) rs1602228017
NM_000291.4(PGK1):c.1072G>A (p.Glu358Lys) rs1603398740
NM_000292.3(PHKA2):c.1138-2A>G rs1601748216
NM_000292.3(PHKA2):c.133C>T (p.Arg45Trp) rs1601781031
NM_000292.3(PHKA2):c.1493C>T (p.Pro498Leu) rs199792389
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.883C>T (p.Arg295Cys) rs797045008
NM_000292.3(PHKA2):c.884G>T (p.Arg295Leu) rs797044877
NM_000294.3(PHKG2):c.1070T>C (p.Leu357Pro) rs762089284
NM_000294.3(PHKG2):c.657del (p.Cys219fs) rs1596687555
NM_000298.6(PKLR):c.1269+43T>C rs8177982
NM_000340.2(SLC2A2):c.329C>T (p.Thr110Ile) rs5400
NM_000343.4(SLC5A1):c.1007G>A (p.Arg336His) rs774651252
NM_000343.4(SLC5A1):c.1695del (p.Asn565fs) rs1455367784
NM_000343.4(SLC5A1):c.799C>T (p.Arg267Ter) rs779502629
NM_000352.5(ABCC8):c.2041-21G>A rs746714109
NM_000352.6(ABCC8):c.1337T>C (p.Ile446Thr) rs765529676
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met) rs139524121
NM_000352.6(ABCC8):c.3578A>T (p.Asp1193Val) rs139486832
NM_000352.6(ABCC8):c.598del (p.Thr200fs) rs1591890137
NM_000352.6(ABCC8):c.602C>T (p.Pro201Leu) rs933815442
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp) rs863225280
NM_000352.6(ABCC8):c.695G>A (p.Trp232Ter) rs1564977373
NM_000398.7(CYB5R3):c.226+2T>C rs1601938489
NM_000398.7(CYB5R3):c.464-2A>C rs794728013
NM_000404.2(GLB1):c.[1285C>T;1097C>A]
NM_000507.4(FBP1):c.472C>T (p.Arg158Trp) rs766005419
NM_000507.4(FBP1):c.611_614del (p.Lys204fs) rs761470205
NM_000507.4(FBP1):c.960_961insG (p.Ser321fs) rs757653154
NM_000512.5(GALNS):c.120+1532G>C rs34150867
NM_000512.5(GALNS):c.1462G>A (p.Val488Met) rs78127134
NM_000512.5(GALNS):c.1493C>T (p.Pro498Leu) rs1597515555
NM_000512.5(GALNS):c.47T>A (p.Val16Glu) rs794729202
NM_000512.5(GALNS):c.491A>C (p.Asn164Thr) rs761725425
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.2457_2460del (p.Gln820fs) rs1553187237
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_001008216.2(GALE):c.284G>A (p.Gly95Asp) rs1243531358
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) rs28940884
NM_001040716.2(PC):c.788G>A (p.Arg263Gln) rs769177104
NM_001040716.2(PC):c.815A>G (p.Gln272Arg) rs1591186383
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616
NM_001041.4(SI):c.4427G>C (p.Gly1476Ala) rs758043919
NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala) rs752737867
NM_001365304.1(LOC112694756):c.*1548G>A rs138824667
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102
NM_001370658.1(BTD):c.1465C>T (p.Pro489Ser) rs1344607767
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu) rs146136265
NM_001370658.1(BTD):c.203del (p.Gln68fs) rs1575013953
NM_001370658.1(BTD):c.250-15del rs587783008
NM_001370658.1(BTD):c.262A>G (p.Ile88Val) rs976185636
NM_001370658.1(BTD):c.281G>T (p.Gly94Val) rs375712490
NM_001370658.1(BTD):c.38G>T (p.Cys13Phe) rs141131444
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232
NM_001370658.1(BTD):c.40_41del (p.Gly14fs) rs765906887
NM_001370658.1(BTD):c.44_45del (p.Cys15fs) rs750965140
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139
NM_001370658.1(BTD):c.496T>G (p.Cys166Gly) rs955385869
NM_001370658.1(BTD):c.705C>G (p.Ile235Met) rs1575029719
NM_001370658.1(BTD):c.798del (p.Ala267fs) rs1575029897
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006
NM_002591.4(PCK1):c.550G>C (p.Val184Leu) rs707555
NM_002637.4(PHKA1):c.3364G>C (p.Glu1122Gln) rs202007590
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519
NM_002863.5(PYGL):c.176C>A (p.Thr59Lys) rs150483902
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927
NM_002863.5(PYGL):c.697G>A (p.Gly233Ser) rs749922511
NM_003041.4(SLC5A2):c.885+5G>A rs200228142
NM_003051.3(SLC16A1):c.979C>T (p.Pro327Ser) rs77373295
NM_003051.3(SLC16A1):c.982C>T (p.Arg328Ter) rs606231310
NM_003051.4(SLC16A1):c.404T>C (p.Ile135Thr) rs1570620206
NM_003477.3(PDHX):c.976G>C (p.Val326Leu) rs35560997
NM_004563.4(PCK2):c.362= (p.Pro121=)
NM_005609.4(PYGM):c.1732CTC[1] (p.Leu579del) rs1592409633
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val) rs113806080
NM_005609.4(PYGM):c.2075_2076del (p.Thr692fs) rs1592408302
NM_006516.3(SLC2A1):c.274del (p.Arg92fs) rs1570593820
NM_006516.3(SLC2A1):c.46_47insCTCCTCA (p.Val16fs) rs1570601060
NM_006516.3(SLC2A1):c.557G>A (p.Trp186Ter) rs1570592933
NM_006516.3(SLC2A1):c.624del (p.Glu209fs) rs1570592844
NM_006516.3(SLC2A1):c.625G>T (p.Glu209Ter) rs1387203768
NM_006516.4(SLC2A1):c.724C>T (p.Gln242Ter) rs794729221
NM_021957.4(GYS2):c.1087A>G (p.Met363Val) rs2306180
NM_152419.3(HGSNAT):c.1297A>G (p.Asn433Asp) rs371469177
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032
NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln) rs727503962
NM_184043.2(ALDOA):c.999+17G>T rs2071390

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