ClinVar Miner

List of variants reported as pathogenic for carbohydrate metabolism disease by Baylor Genetics

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 100
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HGVS dbSNP
GRCh37/hg19 Xq13.2(chrX:71801020-71804146)
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_000151.4(G6PC1):c.1039C>T (p.Gln347Ter) rs80356487
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val) rs104894565
NM_000151.4(G6PC1):c.209G>A (p.Trp70Ter) rs1567702823
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.379_380dup (p.Tyr128fs) rs80356488
NM_000151.4(G6PC1):c.508C>T (p.Arg170Ter) rs373345919
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.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.1935C>A (p.Asp645Glu) rs28940868
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943
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.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.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.626A>G (p.Tyr209Cys) rs111033744
NM_000155.4(GALT):c.775C>T (p.Arg259Trp) rs786204763
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.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.998A>T (p.Glu333Val) rs1553684545
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp) rs774393243
NM_000181.4(GUSB):c.1521G>A (p.Trp507Ter) rs121918179
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_000203.5(IDUA):c.1206G>A (p.Trp402Ter) rs991612107
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_000263.4(NAGLU):c.1811C>T (p.Pro604Leu) rs751203469
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592
NM_000284.4(PDHA1):c.1026_1039del (p.Arg343fs) rs1569194036
NM_000284.4(PDHA1):c.1035_1036dup (p.Ile346fs)
NM_000284.4(PDHA1):c.292-23A>G rs1057518702
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.899+2T>A
NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys) rs137853252
NM_000292.3(PHKA2):c.3529C>T (p.Gln1177Ter)
NM_000292.3(PHKA2):c.394C>T (p.His132Tyr) rs137852292
NM_000343.4(SLC5A1):c.765C>G (p.Cys255Trp)
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.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.2248C>T (p.Arg750Trp) rs80338680
NM_000528.4(MAN2B1):c.2802dup (p.Val935fs) rs1057516864
NM_000642.3(AGL):c.3481_3589-405del
NM_000642.3(AGL):c.3836+1G>A rs780883601
NM_000642.3(AGL):c.4260-12A>G rs369973784
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176
NM_002294.3(LAMP2):c.614_615del (p.Val205fs)
NM_002637.4(PHKA1):c.2603_2604del (p.Ser868fs)
NM_002863.5(PYGL):c.1768+1G>A rs113993982
NM_002863.5(PYGL):c.528+2T>C
NM_004563.4(PCK2):c.1468+2T>C rs148019349
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.793del (p.Gln265fs) rs727502867
NM_012203.2(GRHPR):c.103del (p.Asp35fs) rs80356708
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_021957.4(GYS2):c.547C>T (p.Gln183Ter) rs201157731

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