ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Baylor Genetics

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 239
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 Xq13.2(chrX:71801020-71804146)
NM_000027.4(AGA):c.302C>T (p.Ala101Val) rs121964908
NM_000030.3(AGXT):c.2T>C (p.Met1Thr) rs138584408
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) rs34116584
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529
NM_000030.3(AGXT):c.603C>A (p.Asp201Glu) rs180177246
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys) rs121908526
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928
NM_000035.4(ALDOB):c.113-1_115del rs786204598
NM_000035.4(ALDOB):c.324+2T>A rs1057516379
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs) rs387906225
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln) rs776814144
NM_000108.5(DLD):c.1439T>C (p.Ile480Thr)
NM_000108.5(DLD):c.1471T>C (p.Ser491Pro)
NM_000108.5(DLD):c.656T>C (p.Ile219Thr)
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter) rs80356487
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val) rs104894565
NM_000151.4(G6PC1):c.14T>G (p.Met5Arg) rs1250172816
NM_000151.4(G6PC1):c.209G>A (p.Trp70Ter) rs1567702823
NM_000151.4(G6PC1):c.241G>A (p.Gly81Arg) rs756632286
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175
NM_000151.4(G6PC1):c.248G>A (p.Arg83His) rs1801176
NM_000151.4(G6PC1):c.370G>A (p.Ala124Thr) rs104894568
NM_000151.4(G6PC1):c.379_380dup (p.Tyr128fs) rs80356488
NM_000151.4(G6PC1):c.508C>T (p.Arg170Ter) rs373345919
NM_000151.4(G6PC1):c.538C>T (p.Gln180Ter) rs1597990921
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser) rs80356482
NM_000151.4(G6PC1):c.562G>C (p.Gly188Arg) rs80356482
NM_000151.4(G6PC1):c.59A>G (p.Gln20Arg)
NM_000151.4(G6PC1):c.648G>T (p.Leu216=) rs80356484
NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter) rs80356485
NM_000151.4(G6PC1):c.79del (p.Gln27fs) rs80356479
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val) rs80356483
NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter) rs780226142
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000152.5(GAA):c.1410C>A (p.Asn470Lys)
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu) rs28940868
NM_000152.5(GAA):c.2408A>G (p.Gln803Arg) rs142487534
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943
NM_000152.5(GAA):c.2725G>A (p.Val909Met) rs138407065
NM_000152.5(GAA):c.693-4G>T rs200088236
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561
NM_000152.5(GAA):c.761C>T (p.Ser254Leu) rs577915581
NM_000152.5(GAA):c.[2228A>G;2237G>C]
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys) rs111033814
NM_000155.4(GALT):c.1057C>T (p.Gln353Ter) rs111033818
NM_000155.4(GALT):c.252+1G>A rs768154316
NM_000155.4(GALT):c.278T>C (p.Phe93Ser)
NM_000155.4(GALT):c.292G>C (p.Asp98His) rs111033670
NM_000155.4(GALT):c.29_48delinsGACC (p.Gln10fs) rs1587236467
NM_000155.4(GALT):c.2T>G (p.Met1Arg) rs771702963
NM_000155.4(GALT):c.329-2A>C rs111033667
NM_000155.4(GALT):c.377+2dup rs763662108
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690
NM_000155.4(GALT):c.425T>A (p.Met142Lys) rs111033695
NM_000155.4(GALT):c.428C>T (p.Ser143Leu) rs111033697
NM_000155.4(GALT):c.443G>A (p.Arg148Gln) rs111033694
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.602G>A (p.Arg201His) rs111033735
NM_000155.4(GALT):c.607G>A (p.Glu203Lys) rs111033736
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys) rs111033744
NM_000155.4(GALT):c.775C>T (p.Arg259Trp) rs786204763
NM_000155.4(GALT):c.814C>T (p.Arg272Cys) rs111033766
NM_000155.4(GALT):c.821-7A>G rs767337193
NM_000155.4(GALT):c.855G>T (p.Lys285Asn) rs111033773
NM_000155.4(GALT):c.900G>A (p.Trp300Ter) rs1034185619
NM_000155.4(GALT):c.947G>A (p.Trp316Ter) rs111033790
NM_000155.4(GALT):c.982C>T (p.Arg328Cys) rs144993986
NM_000155.4(GALT):c.983G>A (p.Arg328His) rs111033802
NM_000155.4(GALT):c.997C>G (p.Arg333Gly) rs111033800
NM_000155.4(GALT):c.998G>A (p.Arg333Gln) rs111033808
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter) rs137852888
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp) rs552094593
NM_000158.4(GBE1):c.998A>T (p.Glu333Val) rs1553684545
NM_000175.5(GPI):c.1498G>A (p.Val500Ile)
NM_000175.5(GPI):c.1595G>C (p.Ser532Thr)
NM_000175.5(GPI):c.640A>G (p.Thr214Ala)
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp) rs774393243
NM_000181.4(GUSB):c.1521G>A (p.Trp507Ter) rs121918179
NM_000188.3(HK1):c.2165G>A (p.Arg722Lys)
NM_000188.3(HK1):c.2519C>T (p.Ala840Val)
NM_000199.5(SGSH):c.1080del (p.Val361fs) rs770947426
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221
NM_000202.8(IDS):c.525T>A (p.Asp175Glu)
NM_000203.5(IDUA):c.1206G>A (p.Trp402Ter) rs991612107
NM_000203.5(IDUA):c.1477C>A (p.Pro493Thr)
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) rs121965021
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020
NM_000203.5(IDUA):c.525G>A (p.Trp175Ter)
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr) rs201826605
NM_000208.4(INSR):c.3193C>G (p.Leu1065Val) rs56395521
NM_000262.3(NAGA):c.280G>A (p.Asp94Asn) rs73167107
NM_000263.4(NAGLU):c.100G>C (p.Ala34Pro)
NM_000263.4(NAGLU):c.1314G>C (p.Met438Ile)
NM_000263.4(NAGLU):c.14C>T (p.Ala5Val)
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu) rs751203469
NM_000263.4(NAGLU):c.608G>A (p.Arg203Gln)
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592
NM_000263.4(NAGLU):c.9GGTGGC[3] (p.4VA[3]) rs1024697806
NM_000284.4(PDHA1):c.1026_1039del (p.Arg343fs) rs1569194036
NM_000284.4(PDHA1):c.1035_1036dup (p.Ile346fs)
NM_000284.4(PDHA1):c.265G>A (p.Gly89Ser) rs1569190092
NM_000284.4(PDHA1):c.292-23A>G rs1057518702
NM_000284.4(PDHA1):c.427G>A (p.Gly143Arg) rs1057518695
NM_000284.4(PDHA1):c.482A>G (p.Tyr161Cys) rs1569190962
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser) rs1555933963
NM_000284.4(PDHA1):c.523G>A (p.Ala175Thr) rs1569191372
NM_000284.4(PDHA1):c.821G>C (p.Arg274Thr)
NM_000284.4(PDHA1):c.899+2T>A
NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys) rs137853252
NM_000284.4(PDHA1):c.972G>A (p.Met324Ile) rs755945768
NM_000289.6(PFKM):c.1727A>T (p.Tyr576Phe) rs370424471
NM_000292.3(PHKA2):c.3529C>T (p.Gln1177Ter)
NM_000292.3(PHKA2):c.394C>T (p.His132Tyr) rs137852292
NM_000292.3(PHKA2):c.4C>G (p.Arg2Gly)
NM_000293.3(PHKB):c.1894A>G (p.Asn632Asp)
NM_000294.3(PHKG2):c.127C>T (p.His43Tyr)
NM_000294.3(PHKG2):c.646C>A (p.Leu216Ile)
NM_000294.3(PHKG2):c.927+13G>A
NM_000294.3(PHKG2):c.985C>T (p.Arg329Trp)
NM_000298.6(PKLR):c.727G>A (p.Gly243Ser) rs745797890
NM_000298.6(PKLR):c.814C>G (p.Leu272Val)
NM_000308.4(CTSA):c.601-2A>G rs778159802
NM_000343.4(SLC5A1):c.101T>C (p.Ile34Thr) rs139760182
NM_000343.4(SLC5A1):c.312+3G>A rs200776237
NM_000343.4(SLC5A1):c.765C>G (p.Cys255Trp)
NM_000352.6(ABCC8):c.1630+5G>T
NM_000352.6(ABCC8):c.3158G>A (p.Ser1053Asn)
NM_000404.4(GLB1):c.1313G>A (p.Gly438Glu) rs72555367
NM_000404.4(GLB1):c.176G>A (p.Arg59His) rs72555392
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys) rs118204437
NM_000512.5(GALNS):c.1345G>A (p.Gly449Arg)
NM_000512.5(GALNS):c.1365-1G>C
NM_000528.4(MAN2B1):c.1228C>T (p.Gln410Ter)
NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter) rs775200333
NM_000528.4(MAN2B1):c.1516_1519del (p.Thr506fs) rs1599349822
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000528.4(MAN2B1):c.2467C>T (p.Arg823Cys)
NM_000528.4(MAN2B1):c.2701C>A (p.His901Asn) rs200033151
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg) rs754733253
NM_000528.4(MAN2B1):c.2802dup (p.Val935fs) rs1057516864
NM_000642.3(AGL):c.1319C>A (p.Ser440Tyr)
NM_000642.3(AGL):c.188G>A (p.Arg63His)
NM_000642.3(AGL):c.2911A>G (p.Ser971Gly)
NM_000642.3(AGL):c.3481_3589-405del
NM_000642.3(AGL):c.3639G>C (p.Gln1213His)
NM_000642.3(AGL):c.3677T>G (p.Ile1226Arg)
NM_000642.3(AGL):c.3836+1G>A rs780883601
NM_000642.3(AGL):c.4260-12A>G rs369973784
NM_000642.3(AGL):c.4262A>G (p.Asp1421Gly) rs761264157
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys) rs775685508
NM_001008216.2(GALE):c.449C>T (p.Thr150Met)
NM_001040716.2(PC):c.1-4C>A
NM_001040716.2(PC):c.1825+3A>C
NM_001040716.2(PC):c.3107G>A (p.Arg1036His) rs141237842
NM_001040716.2(PC):c.3496A>G (p.Met1166Val)
NM_001041.4(SI):c.1043C>T (p.Pro348Leu) rs77546399
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616
NM_001064.4(TKT):c.1540G>A (p.Glu514Lys)
NM_001064.4(TKT):c.541A>G (p.Ile181Val) rs17052920
NM_001164277.1(SLC37A4):c.100G>A (p.Val34Ile)
NM_001164277.1(SLC37A4):c.205G>T (p.Val69Leu) rs375754042
NM_001205019.2(GK):c.106C>T (p.Leu36Phe)
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176
NM_001931.5(DLAT):c.956C>T (p.Pro319Leu)
NM_002076.4(GNS):c.531G>T (p.Lys177Asn)
NM_002076.4(GNS):c.980A>G (p.Asn327Ser)
NM_002103.5(GYS1):c.1184C>T (p.Thr395Met)
NM_002103.5(GYS1):c.1436C>T (p.Pro479Leu) rs144681053
NM_002294.3(LAMP2):c.1217G>T (p.Gly406Val)
NM_002294.3(LAMP2):c.614_615del (p.Val205fs)
NM_002299.4(LCT):c.5723G>A (p.Arg1908His)
NM_002591.4(PCK1):c.7C>T (p.Pro3Ser) rs147120329
NM_002637.4(PHKA1):c.1384G>A (p.Val462Met)
NM_002637.4(PHKA1):c.152T>C (p.Ile51Thr)
NM_002637.4(PHKA1):c.2603_2604del (p.Ser868fs)
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.1768+1G>A rs113993982
NM_002863.5(PYGL):c.2083G>A (p.Gly695Arg)
NM_002863.5(PYGL):c.298A>G (p.Met100Val)
NM_002863.5(PYGL):c.528+2T>C
NM_002863.5(PYGL):c.749C>T (p.Pro250Leu)
NM_003477.3(PDHX):c.1129A>G (p.Ile377Val) rs75430333
NM_003477.3(PDHX):c.622C>T (p.Arg208Trp) rs61752927
NM_004563.4(PCK2):c.1468+2T>C rs148019349
NM_004563.4(PCK2):c.157C>T (p.Arg53Cys)
NM_004563.4(PCK2):c.1756G>A (p.Gly586Ser) rs61737098
NM_004563.4(PCK2):c.1907G>A (p.Arg636His)
NM_004563.4(PCK2):c.287G>A (p.Arg96His)
NM_005271.5(GLUD1):c.1652A>G (p.Asn551Ser) rs373705613
NM_005271.5(GLUD1):c.839T>C (p.Ile280Thr)
NM_005566.4(LDHA):c.476T>A (p.Ile159Asn)
NM_005609.4(PYGM):c.-20C>T
NM_005609.4(PYGM):c.1403+5G>A
NM_005609.4(PYGM):c.2447G>A (p.Arg816His) rs139230055
NM_005908.4(MANBA):c.1382C>T (p.Ala461Val)
NM_005908.4(MANBA):c.177+2T>C
NM_005908.4(MANBA):c.2180C>T (p.Ser727Phe)
NM_005908.4(MANBA):c.536A>G (p.Asn179Ser)
NM_006516.3(SLC2A1):c.141A>T (p.Thr47=) rs150863093
NM_006516.3(SLC2A1):c.19-2A>G rs796053272
NM_006516.3(SLC2A1):c.376C>T (p.Arg126Cys) rs80359818
NM_006516.3(SLC2A1):c.988C>T (p.Arg330Ter)
NM_006516.4(SLC2A1):c.724C>T (p.Gln242Ter) rs794729221
NM_006755.2(TALDO1):c.181C>G (p.Leu61Val) rs149640294
NM_006755.2(TALDO1):c.293A>T (p.Lys98Met) rs758756190
NM_006755.2(TALDO1):c.330-10_330delinsAGA
NM_006755.2(TALDO1):c.574C>T (p.Arg192Cys) rs751425603
NM_006755.2(TALDO1):c.793del (p.Gln265fs) rs727502867
NM_006755.2(TALDO1):c.888G>A (p.Trp296Ter)
NM_006755.2(TALDO1):c.982G>A (p.Glu328Lys)
NM_006859.4(LIAS):c.152G>A (p.Gly51Asp)
NM_006859.4(LIAS):c.76A>G (p.Arg26Gly)
NM_006859.4(LIAS):c.877A>G (p.Met293Val) rs943564525
NM_012203.2(GRHPR):c.103del (p.Asp35fs) rs80356708
NM_012203.2(GRHPR):c.374G>A (p.Arg125Gln)
NM_013995.2(LAMP2):c.138G>A (p.Trp46Ter) rs1271031981
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter) rs201337954
NM_018297.4(NGLY1):c.1370dup (p.Arg458fs) rs587777265
NM_018297.4(NGLY1):c.1525A>G (p.Asn509Asp)
NM_018297.4(NGLY1):c.485C>T (p.Ala162Val)
NM_018297.4(NGLY1):c.776C>G (p.Ser259Cys)
NM_021957.4(GYS2):c.1553A>C (p.Glu518Ala) rs150433001
NM_021957.4(GYS2):c.547C>T (p.Gln183Ter) rs201157731
NM_022916.6(VPS33A):c.1420A>G (p.Met474Val)
NM_022916.6(VPS33A):c.1457C>T (p.Ser486Leu)
NM_031229.4(RBCK1):c.41G>A (p.Ser14Asn)
NM_033500.2(HK1):c.27+15155T>A
NM_145262.4(GLYCTK):c.1036C>G (p.Gln346Glu)
NM_145262.4(GLYCTK):c.384G>C (p.Met128Ile) rs150662353
NM_145262.4(GLYCTK):c.550C>T (p.Pro184Ser)
NM_145262.4(GLYCTK):c.791T>A (p.Val264Glu)
NM_152419.3(HGSNAT):c.1457G>T (p.Gly486Val)
NM_152419.3(HGSNAT):c.1856G>C (p.Trp619Ser) rs1563388121

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