ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 151
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HGVS dbSNP
NM_000027.4(AGA):c.281+1G>T rs1553994812
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529
NM_000030.3(AGXT):c.777-1G>C rs180177267
NM_000030.3(AGXT):c.847-3C>G rs180177286
NM_000030.3(AGXT):c.865C>T (p.Arg289Cys) rs180177290
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) rs118204429
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp) rs76917243
NM_000046.5(ARSB):c.317G>A (p.Arg106His) rs150087888
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys) rs118203943
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990
NM_000108.5(DLD):c.788G>A (p.Arg263His) rs145670503
NM_000147.4(FUCA1):c.433T>C (p.Trp145Arg) rs150062050
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter) rs80356487
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175
NM_000151.4(G6PC1):c.508C>T (p.Arg170Ter) rs373345919
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000152.5(GAA):c.1392G>C (p.Arg464Ser) rs372786811
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn) rs398123169
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro) rs779556619
NM_000152.5(GAA):c.169C>T (p.Gln57Ter) rs1057516251
NM_000152.5(GAA):c.1823G>A (p.Arg608Gln) rs377126280
NM_000152.5(GAA):c.1979G>A (p.Arg660His) rs374143224
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter) rs780321415
NM_000152.5(GAA):c.265C>T (p.Arg89Cys) rs534192892
NM_000152.5(GAA):c.688G>A (p.Val230Met) rs145866792
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690
NM_000155.4(GALT):c.508-1G>C rs398123181
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579
NM_000155.4(GALT):c.584T>C (p.Leu195Pro) rs111033728
NM_000155.4(GALT):c.855G>T (p.Lys285Asn) rs111033773
NM_000155.4(GALT):c.997C>T (p.Arg333Trp) rs111033800
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys) rs201758548
NM_000158.4(GBE1):c.15G>A (p.Met5Ile) rs62267114
NM_000158.4(GBE1):c.691+2T>C rs192044702
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser) rs80338671
NM_000162.5(GCK):c.1310C>T (p.Thr437Ile) rs1185622190
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu) rs193922283
NM_000162.5(GCK):c.544G>A (p.Val182Met) rs587780345
NM_000162.5(GCK):c.667G>A (p.Gly223Ser) rs1360415315
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934
NM_000162.5(GCK):c.766G>A (p.Glu256Lys) rs769268803
NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys) rs121918173
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn) rs149606212
NM_000181.4(GUSB):c.526C>T (p.Leu176Phe) rs121918181
NM_000188.3(HK1):c.1370C>T (p.Thr457Met) rs1057517928
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp) rs777267343
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter) rs374621913
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser) rs143947056
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) rs121965019
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) rs121965021
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020
NM_000208.4(INSR):c.2388G>C (p.Arg796Ser) rs78433961
NM_000208.4(INSR):c.2498G>A (p.Arg833Gln) rs777565396
NM_000208.4(INSR):c.2665C>T (p.Arg889Trp) rs76077021
NM_000208.4(INSR):c.3775G>A (p.Asp1259Asn) rs369102740
NM_000262.3(NAGA):c.280G>A (p.Asp94Asn) rs73167107
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529
NM_000263.4(NAGLU):c.1304A>G (p.Asn435Ser) rs764815033
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr) rs147293270
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) rs148881970
NM_000289.6(PFKM):c.237+1G>A rs202143236
NM_000291.4(PGK1):c.1234G>A (p.Asp412Asn) rs782165735
NM_000291.4(PGK1):c.248T>C (p.Val83Ala) rs138851144
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys) rs34667348
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988
NM_000298.6(PKLR):c.1614A>T (p.Glu538Asp) rs201217064
NM_000298.6(PKLR):c.721G>T (p.Glu241Ter) rs201953584
NM_000340.2(SLC2A2):c.1432C>G (p.Leu478Val) rs5397
NM_000340.2(SLC2A2):c.158G>A (p.Arg53Gln) rs145210664
NM_000352.5(ABCC8):c.290+2T>C rs1554948310
NM_000352.5(ABCC8):c.413-5G>A rs186946111
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669
NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr) rs138687850
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln) rs72559734
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722
NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter) rs193922402
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg) rs72559715
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln) rs564428355
NM_000404.4(GLB1):c.1588C>T (p.Arg530Cys) rs371397760
NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg) rs371582179
NM_000404.4(GLB1):c.443G>A (p.Arg148His) rs745864233
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg) rs376710410
NM_000512.5(GALNS):c.268C>T (p.Arg90Trp) rs1028668536
NM_000512.5(GALNS):c.901G>T (p.Gly301Cys) rs118204443
NM_000525.3(KCNJ11):c.1016T>G (p.Val339Gly) rs138125678
NM_000525.3(KCNJ11):c.844G>A (p.Glu282Lys) rs267607196
NM_000525.3(KCNJ11):c.973C>A (p.Arg325Ser) rs550315112
NM_000642.3(AGL):c.1028G>A (p.Arg343Gln) rs137943515
NM_000642.3(AGL):c.1241C>T (p.Pro414Leu) rs758882822
NM_000642.3(AGL):c.1933A>G (p.Thr645Ala) rs576969969
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser) rs149210307
NM_000642.3(AGL):c.256C>T (p.Gln86Ter) rs193186112
NM_000642.3(AGL):c.3697G>A (p.Glu1233Lys) rs375254875
NM_000642.3(AGL):c.837C>A (p.His279Gln) rs1242665410
NM_001040716.2(PC):c.3107G>A (p.Arg1036His) rs141237842
NM_001040716.2(PC):c.496G>A (p.Val166Ile) rs147697454
NM_001040716.2(PC):c.633+2T>C rs763433647
NM_001352514.2(HLCS):c.1550C>T (p.Thr517Ile) rs575286749
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp) rs119103229
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.1535C>T (p.Thr512Met) rs104893688
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686
NM_001370658.1(BTD):c.383G>A (p.Arg128His) rs367902696
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly) rs28934601
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519
NM_002863.5(PYGL):c.1582G>A (p.Asp528Asn) rs138461745
NM_002863.5(PYGL):c.1828-9T>A rs372338710
NM_003477.3(PDHX):c.134G>A (p.Trp45Ter) rs1064796807
NM_003477.3(PDHX):c.44G>A (p.Arg15His) rs387906998
NM_003477.3(PDHX):c.589C>A (p.Leu197Met) rs139052284
NM_004130.3(GYG1):c.304G>C (p.Asp102His) rs143137713
NM_005327.5(HADH):c.456G>T (p.Gln152His) rs1051519
NM_005327.5(HADH):c.643C>A (p.Pro215Thr) rs140413151
NM_005327.5(HADH):c.662G>A (p.Arg221His) rs76476980
NM_005609.4(PYGM):c.1436A>G (p.Lys479Arg) rs750032282
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552
NM_005609.4(PYGM):c.160T>G (p.Phe54Val) rs148839812
NM_005609.4(PYGM):c.1768+1G>A rs771427957
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val) rs61736659
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg) rs119103258
NM_005609.4(PYGM):c.2446C>T (p.Arg816Cys) rs143177272
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser) rs119103251
NM_005908.4(MANBA):c.2296C>T (p.Arg766Trp) rs147428514
NM_006516.3(SLC2A1):c.1372C>T (p.Arg458Trp) rs13306758
NM_006516.3(SLC2A1):c.188C>T (p.Thr63Met) rs200828053
NM_006516.3(SLC2A1):c.667C>T (p.Arg223Trp) rs796053248
NM_006516.3(SLC2A1):c.997C>T (p.Arg333Trp) rs80359825
NM_016203.4(PRKAG2):c.31A>G (p.Lys11Glu) rs1041124171
NM_016203.4(PRKAG2):c.425C>T (p.Thr142Ile) rs397517270
NM_018297.4(NGLY1):c.1150-1G>C rs532007026
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter) rs201337954
NM_018297.4(NGLY1):c.1469C>T (p.Ser490Phe) rs144262689
NM_018297.4(NGLY1):c.1637C>T (p.Ser546Leu) rs1040190748
NM_018297.4(NGLY1):c.53C>T (p.Ala18Val) rs776883349
NM_018297.4(NGLY1):c.659G>A (p.Gly220Asp) rs748862974
NM_021957.4(GYS2):c.1156C>T (p.Arg386Ter) rs146195866
NM_021957.4(GYS2):c.547C>T (p.Gln183Ter) rs201157731
NM_021957.4(GYS2):c.574C>T (p.Arg192Ter) rs150382575
NM_021957.4(GYS2):c.736C>T (p.Arg246Ter) rs121918419
NM_138413.4(HOGA1):c.208C>T (p.Arg70Ter) rs758304537
NM_138413.4(HOGA1):c.700+5G>T rs185803104
NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys) rs753355844
NM_152419.3(HGSNAT):c.493+1G>A rs193066451
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu) rs121908282

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