ClinVar Miner

List of variants reported as pathogenic 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: 64
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HGVS dbSNP
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_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp) rs76917243
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys) rs118203943
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990
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.1655T>C (p.Leu552Pro) rs779556619
NM_000152.5(GAA):c.169C>T (p.Gln57Ter) rs1057516251
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_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690
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.691+2T>C rs192044702
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser) rs80338671
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.526C>T (p.Leu176Phe) rs121918181
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_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695
NM_000298.6(PKLR):c.721G>T (p.Glu241Ter) rs201953584
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln) rs72559734
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722
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_000642.3(AGL):c.256C>T (p.Gln86Ter) rs193186112
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp) rs119103229
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.451G>A (p.Ala151Thr) rs13073139
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly) rs28934601
NM_004130.3(GYG1):c.304G>C (p.Asp102His) rs143137713
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552
NM_005609.4(PYGM):c.1768+1G>A rs771427957
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser) rs119103251
NM_006516.3(SLC2A1):c.667C>T (p.Arg223Trp) rs796053248
NM_006516.3(SLC2A1):c.997C>T (p.Arg333Trp) rs80359825
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter) rs201337954
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

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