ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 89
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HGVS dbSNP
NM_000027.4(AGA):c.115G>A (p.Ala39Thr) rs763326444
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928
NM_000046.5(ARSB):c.982G>C (p.Gly328Arg) rs748454316
NM_000147.4(FUCA1):c.923G>A (p.Arg308His) rs372537257
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser) rs752921215
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943
NM_000152.5(GAA):c.896T>C (p.Leu299Pro) rs121907940
NM_000155.4(GALT):c.572C>T (p.Ala191Val) rs794727838
NM_000181.4(GUSB):c.980G>T (p.Arg327Leu) rs1583924426
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys) rs529855742
NM_000199.5(SGSH):c.578T>C (p.Phe193Ser) rs1555621662
NM_000199.5(SGSH):c.763del (p.Gln255fs) rs1555620827
NM_000199.5(SGSH):c.812C>T (p.Thr271Met) rs746776254
NM_000199.5(SGSH):c.89-2A>G rs1369704445
NM_000202.8(IDS):c.1099A>T (p.Thr367Ser) rs1557338131
NM_000202.8(IDS):c.196C>T (p.Gln66Ter) rs1557340403
NM_000202.8(IDS):c.473ATC[1] (p.His159del) rs1557339887
NM_000203.5(IDUA):c.1029C>A (p.Tyr343Ter) rs764196171
NM_000203.5(IDUA):c.523T>C (p.Trp175Arg) rs875989946
NM_000203.5(IDUA):c.612_615dup (p.Ser206fs) rs875989947
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.1444C>T (p.Arg482Trp) rs104894596
NM_000263.4(NAGLU):c.1944dup (p.Trp649fs) rs886039895
NM_000263.4(NAGLU):c.480del (p.Asn160fs) rs886039894
NM_000263.4(NAGLU):c.534_535del (p.Tyr179fs) rs1567891258
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595
NM_000284.4(PDHA1):c.1133G>A (p.Arg378His) rs137853250
NM_000290.4(PGAM2):c.533del (p.Gly178fs) rs747947171
NM_000292.3(PHKA2):c.1618G>A (p.Val540Met) rs368594655
NM_000292.3(PHKA2):c.3064T>A (p.Ser1022Thr) rs773766679
NM_000292.3(PHKA2):c.3590G>T (p.Cys1197Phe) rs1569286164
NM_000293.3(PHKB):c.203C>T (p.Thr68Ile) rs1555472064
NM_000293.3(PHKB):c.400G>A (p.Asp134Asn) rs144486825
NM_000293.3(PHKB):c.574A>G (p.Ile192Val) rs117218785
NM_000298.6(PKLR):c.1511G>A (p.Arg504His) rs185753709
NM_000298.6(PKLR):c.331G>A (p.Gly111Arg) rs918627824
NM_000340.2(SLC2A2):c.1043dup (p.Asn349fs) rs1553785722
NM_000340.2(SLC2A2):c.613-1G>C rs1553786361
NM_000343.4(SLC5A1):c.9_11dup (p.Ser4dup) rs775681808
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257
NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys) rs28938469
NM_000365.6(TPI1):c.617G>A (p.Arg206His) rs782417309
NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter) rs72555372
NM_000404.4(GLB1):c.443G>A (p.Arg148His) rs745864233
NM_000507.4(FBP1):c.841G>T (p.Glu281Ter) rs566453434
NM_000507.4(FBP1):c.966del (p.Asp323fs) rs747269745
NM_000512.5(GALNS):c.1219A>C (p.Asn407His) rs749578474
NM_000512.5(GALNS):c.1502G>A (p.Cys501Tyr) rs948490589
NM_000512.5(GALNS):c.542A>G (p.Tyr181Cys) rs786205899
NM_000512.5(GALNS):c.952A>G (p.Met318Val) rs537013895
NM_000528.4(MAN2B1):c.2249G>A (p.Arg750Gln) rs373240866
NM_000642.3(AGL):c.334A>G (p.Ile112Val) rs147024351
NM_000642.3(AGL):c.4037C>T (p.Ser1346Leu) rs1553192908
NM_000642.3(AGL):c.4221dup (p.Leu1408fs) rs786204655
NM_000925.4(PDHB):c.962C>T (p.Pro321Leu) rs1576955015
NM_001040716.2(PC):c.1607C>T (p.Pro536Leu) rs751657066
NM_001040716.2(PC):c.1832C>T (p.Thr611Met) rs757071897
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616
NM_001195553.2(DCX):c.288C>A (p.Asn96Lys) rs1556405057
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232
NM_002103.5(GYS1):c.162_163del (p.Asp56fs) rs587777375
NM_002637.4(PHKA1):c.2063G>A (p.Arg688Gln) rs201234013
NM_002637.4(PHKA1):c.835A>G (p.Thr279Ala)
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519
NM_002863.5(PYGL):c.298_307del (p.Met100fs) rs1555328280
NM_003041.4(SLC5A2):c.416G>A (p.Arg139His) rs1378076282
NM_003041.4(SLC5A2):c.655+6G>C rs779984246
NM_004130.3(GYG1):c.866G>T (p.Gly289Val) rs1553733613
NM_004563.4(PCK2):c.577C>T (p.Arg193Ter) rs753706965
NM_004563.4(PCK2):c.68C>G (p.Ser23Ter) rs61752842
NM_005271.5(GLUD1):c.1100A>G (p.Tyr367Cys) rs766896575
NM_005609.4(PYGM):c.1044del (p.Glu349fs) rs1592412131
NM_005609.4(PYGM):c.1175T>C (p.Leu392Pro) rs759336535
NM_005609.4(PYGM):c.2398C>T (p.Arg800Trp) rs759260599
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser) rs114468011
NM_005908.4(MANBA):c.590C>G (p.Pro197Arg) rs1553951373
NM_005915.6(MCM6):c.1402C>T (p.Arg468Trp) rs138808270
NM_005915.6(MCM6):c.1654A>G (p.Ile552Val) rs776037433
NM_014226.3(MOK):c.630_631dup (p.Ile211fs) rs769431982
NM_145262.4(GLYCTK):c.1478T>G (p.Phe493Cys) rs121909448
NM_145262.4(GLYCTK):c.457C>T (p.Arg153Trp) rs199906865
NM_145262.4(GLYCTK):c.60_62del (p.Trp21del) rs1553621315
NM_152419.3(HGSNAT):c.1048C>T (p.Gln350Ter) rs752939204
NM_152419.3(HGSNAT):c.1345dup (p.Asp449fs) rs483352894
NM_152419.3(HGSNAT):c.235-9T>G rs913764481

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