ClinVar Miner

List of variants reported as likely pathogenic for carbohydrate metabolism disease by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 87
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HGVS dbSNP
NM_000030.3(AGXT):c.1084G>A (p.Gly362Ser) rs569643246
NM_000030.3(AGXT):c.116_117dup (p.Ala40fs) rs180177166
NM_000030.3(AGXT):c.577dup (p.Leu193fs) rs180177241
NM_000035.4(ALDOB):c.113-1_115del rs786204598
NM_000035.4(ALDOB):c.250del (p.Leu84fs)
NM_000035.4(ALDOB):c.324G>A (p.Lys108=) rs750026492
NM_000035.4(ALDOB):c.625-2A>G rs786204503
NM_000046.5(ARSB):c.1394C>G (p.Ser465Ter) rs1209412483
NM_000046.5(ARSB):c.1507C>T (p.Gln503Ter) rs771113472
NM_000147.5(FUCA1):c.952G>T (p.Glu318Ter)
NM_000151.4(G6PC1):c.479G>A (p.Trp160Ter)
NM_000151.4(G6PC1):c.757del (p.Ile253fs)
NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter) rs780226142
NM_000152.5(GAA):c.1564C>T (p.Pro522Ser)
NM_000152.5(GAA):c.1716C>G (p.His572Gln)
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp) rs374470794
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp)
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs) rs1567835781
NM_000152.5(GAA):c.1952del (p.Gly651fs) rs1567835775
NM_000152.5(GAA):c.2228A>G (p.Gln743Arg) rs1567838823
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg) rs1479740763
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly) rs1479740763
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys) rs144016984
NM_000152.5(GAA):c.307T>C (p.Cys103Arg)
NM_000152.5(GAA):c.3G>A (p.Met1Ile)
NM_000152.5(GAA):c.671G>A (p.Arg224Gln) rs200210219
NM_000152.5(GAA):c.836G>A (p.Trp279Ter)
NM_000152.5(GAA):c.858+2T>A rs1555599713
NM_000152.5(GAA):c.953T>C (p.Met318Thr) rs121907936
NM_000152.5(GAA):c.971C>T (p.Pro324Leu) rs750030887
NM_000155.4(GALT):c.1052del (p.Pro351fs) rs111033813
NM_000155.4(GALT):c.1060-1G>A rs367543268
NM_000155.4(GALT):c.221T>C (p.Leu74Pro) rs111033663
NM_000155.4(GALT):c.385A>T (p.Met129Leu) rs193922248
NM_000155.4(GALT):c.598C>T (p.Gln200Ter) rs1564101619
NM_000155.4(GALT):c.598del (p.Gln200fs) rs111033738
NM_000155.4(GALT):c.619C>T (p.Gln207Ter) rs111033743
NM_000155.4(GALT):c.687+1G>T rs193922250
NM_000155.4(GALT):c.688-2A>C rs398123185
NM_000155.4(GALT):c.761dup (p.Leu255fs) rs747036550
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000155.4(GALT):c.888C>G (p.Tyr296Ter) rs1554709447
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.98G>A (p.Arg33His) rs111033829
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671
NM_000199.5(SGSH):c.1153del (p.Arg385fs)
NM_000199.5(SGSH):c.1167C>A (p.Asn389Lys) rs764057581
NM_000199.5(SGSH):c.1A>G (p.Met1Val) rs1250300189
NM_000199.5(SGSH):c.265_269del (p.Tyr89fs)
NM_000199.5(SGSH):c.629G>A (p.Trp210Ter) rs886041370
NM_000202.8(IDS):c.143G>C (p.Arg48Pro) rs1569560528
NM_000202.8(IDS):c.419-1G>A rs1557339927
NM_000203.5(IDUA):c.1395del (p.Gly466fs)
NM_000203.5(IDUA):c.1893del (p.Phe632fs) rs1553917754
NM_000203.5(IDUA):c.1907_1917del (p.Val636fs)
NM_000203.5(IDUA):c.457A>T (p.Lys153Ter)
NM_000203.5(IDUA):c.512_513del (p.His171fs)
NM_000203.5(IDUA):c.60_61delinsA (p.Pro22fs) rs1553914762
NM_000203.5(IDUA):c.65del (p.Pro22fs)
NM_000284.4(PDHA1):c.1050_1133dup (p.Gln351_Arg378dup) rs1555935486
NM_000308.4(CTSA):c.112del (p.Leu38fs)
NM_000352.6(ABCC8):c.2202del (p.Ala736fs) rs1554924035
NM_000352.6(ABCC8):c.4451G>A (p.Gly1484Glu) rs193922405
NM_000404.4(GLB1):c.733+2T>C
NM_000434.4(NEU1):c.838C>T (p.Arg280Ter)
NM_000512.5(GALNS):c.489del (p.Asn164fs) rs1328983959
NM_000512.5(GALNS):c.499T>G (p.Phe167Val) rs148565559
NM_000512.5(GALNS):c.899-2A>G rs1165218506
NM_000528.4(MAN2B1):c.1388_1389del (p.Arg463fs)
NM_000528.4(MAN2B1):c.1929-2A>G
NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg) rs864621977
NM_000642.3(AGL):c.1405C>T (p.Arg469Ter) rs766536350
NM_000642.3(AGL):c.293+1del rs777857395
NM_000642.3(AGL):c.4422del (p.Ala1475fs)
NM_000642.3(AGL):c.94C>T (p.Gln32Ter) rs786204489
NM_001164277.1(SLC37A4):c.234G>A (p.Trp78Ter)
NM_001164277.1(SLC37A4):c.381+2T>G rs782645078
NM_001287174.2(ABCC8):c.3403-1G>A rs576684889
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter) rs146448211
NM_001467.6(SLC37A4):c.1019_1038del (p.Phe340fs)
NM_001467.6(SLC37A4):c.1124+2dup rs1459811938
NM_001467.6(SLC37A4):c.359dup (p.Cys121fs) rs1182102272
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678
NM_012203.2(GRHPR):c.735-1G>A rs180177317
NM_144563.3(RPIA):c.253G>A (p.Ala85Thr)
NM_152419.3(HGSNAT):c.947G>A (p.Trp316Ter) rs1554533211

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