ClinVar Miner

List of variants reported as likely pathogenic for carbohydrate metabolism disease by Myriad Women's Health, Inc.

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 127
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HGVS dbSNP
NM_000030.3(AGXT):c.198C>A (p.Tyr66Ter)
NM_000030.3(AGXT):c.252T>A (p.Cys84Ter)
NM_000030.3(AGXT):c.358G>T (p.Gly120Ter)
NM_000030.3(AGXT):c.412G>T (p.Glu138Ter)
NM_000030.3(AGXT):c.439A>T (p.Lys147Ter)
NM_000030.3(AGXT):c.653C>A (p.Ser218Ter)
NM_000035.4(ALDOB):c.172C>T (p.Gln58Ter)
NM_000035.4(ALDOB):c.214C>T (p.Gln72Ter)
NM_000035.4(ALDOB):c.439A>T (p.Lys147Ter)
NM_000035.4(ALDOB):c.474T>A (p.Cys158Ter)
NM_000108.5(DLD):c.1105G>T (p.Glu369Ter)
NM_000108.5(DLD):c.1119T>A (p.Cys373Ter)
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys) rs121964992
NM_000108.5(DLD):c.325A>T (p.Arg109Ter)
NM_000108.5(DLD):c.748G>T (p.Gly250Ter)
NM_000108.5(DLD):c.802C>T (p.Gln268Ter)
NM_000108.5(DLD):c.904G>T (p.Glu302Ter)
NM_000108.5(DLD):c.936C>A (p.Cys312Ter)
NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter) rs80356485
NM_000152.5(GAA):c.1547G>A (p.Trp516Ter)
NM_000152.5(GAA):c.2130C>A (p.Tyr710Ter)
NM_000152.5(GAA):c.2143C>T (p.Gln715Ter)
NM_000152.5(GAA):c.2383G>T (p.Glu795Ter) rs886043882
NM_000152.5(GAA):c.2545A>T (p.Lys849Ter)
NM_000152.5(GAA):c.2619C>A (p.Tyr873Ter)
NM_000152.5(GAA):c.904G>T (p.Glu302Ter)
NM_000152.5(GAA):c.917C>A (p.Ser306Ter)
NM_000154.2(GALK1):c.250G>T (p.Glu84Ter)
NM_000154.2(GALK1):c.298G>T (p.Glu100Ter)
NM_000154.2(GALK1):c.317G>A (p.Trp106Ter)
NM_000154.2(GALK1):c.479C>A (p.Ser160Ter)
NM_000154.2(GALK1):c.775C>T (p.Gln259Ter)
NM_000154.2(GALK1):c.784G>T (p.Glu262Ter)
NM_000155.4(GALT):c.413C>T (p.Thr138Met) rs111033686
NM_000155.4(GALT):c.512T>C (p.Phe171Ser) rs111033715
NM_000155.4(GALT):c.514G>T (p.Glu172Ter)
NM_000155.4(GALT):c.561C>A (p.Cys187Ter)
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys) rs111033744
NM_000155.4(GALT):c.670C>T (p.Gln224Ter)
NM_000155.4(GALT):c.737G>A (p.Trp246Ter)
NM_000155.4(GALT):c.796G>T (p.Glu266Ter)
NM_000155.4(GALT):c.853A>T (p.Lys285Ter)
NM_000155.4(GALT):c.888C>A (p.Tyr296Ter)
NM_000203.5(IDUA):c.1219C>T (p.Gln407Ter)
NM_000203.5(IDUA):c.1461G>A (p.Trp487Ter)
NM_000203.5(IDUA):c.439C>T (p.Gln147Ter)
NM_000203.5(IDUA):c.525G>A (p.Trp175Ter)
NM_000203.5(IDUA):c.539G>A (p.Trp180Ter)
NM_000203.5(IDUA):c.615C>A (p.Cys205Ter)
NM_000263.4(NAGLU):c.434G>A (p.Trp145Ter)
NM_000263.4(NAGLU):c.556C>T (p.Gln186Ter)
NM_000263.4(NAGLU):c.629G>A (p.Trp210Ter)
NM_000528.4(MAN2B1):c.1363C>T (p.Gln455Ter)
NM_000528.4(MAN2B1):c.1406G>A (p.Trp469Ter)
NM_000528.4(MAN2B1):c.1450A>T (p.Arg484Ter)
NM_000528.4(MAN2B1):c.1483C>T (p.Gln495Ter)
NM_000528.4(MAN2B1):c.1545T>A (p.Tyr515Ter)
NM_000528.4(MAN2B1):c.1736C>G (p.Ser579Ter)
NM_000528.4(MAN2B1):c.1803G>A (p.Trp601Ter)
NM_000528.4(MAN2B1):c.1954G>T (p.Glu652Ter)
NM_000528.4(MAN2B1):c.2002A>T (p.Lys668Ter)
NM_000528.4(MAN2B1):c.2025G>A (p.Trp675Ter)
NM_000528.4(MAN2B1):c.2044A>T (p.Lys682Ter)
NM_000528.4(MAN2B1):c.2071C>T (p.Gln691Ter)
NM_000528.4(MAN2B1):c.2091T>A (p.Cys697Ter)
NM_000528.4(MAN2B1):c.2174G>A (p.Trp725Ter)
NM_000528.4(MAN2B1):c.2723G>A (p.Trp908Ter)
NM_000528.4(MAN2B1):c.2731G>T (p.Glu911Ter)
NM_000528.4(MAN2B1):c.2752G>T (p.Glu918Ter)
NM_000528.4(MAN2B1):c.292C>T (p.Gln98Ter)
NM_000528.4(MAN2B1):c.495C>A (p.Tyr165Ter)
NM_000528.4(MAN2B1):c.807G>A (p.Trp269Ter)
NM_000528.4(MAN2B1):c.953C>A (p.Ser318Ter)
NM_000642.3(AGL):c.1038T>A (p.Cys346Ter)
NM_000642.3(AGL):c.1110C>A (p.Cys370Ter)
NM_000642.3(AGL):c.1417G>T (p.Glu473Ter)
NM_000642.3(AGL):c.1649T>G (p.Leu550Ter)
NM_000642.3(AGL):c.16C>T (p.Gln6Ter) rs113994126
NM_000642.3(AGL):c.1727T>G (p.Leu576Ter)
NM_000642.3(AGL):c.1890T>A (p.Cys630Ter)
NM_000642.3(AGL):c.18_19del (p.Gln6fs) rs113994127
NM_000642.3(AGL):c.2569C>T (p.Gln857Ter)
NM_000642.3(AGL):c.2738C>A (p.Ser913Ter)
NM_000642.3(AGL):c.2894G>A (p.Trp965Ter)
NM_000642.3(AGL):c.3480T>A (p.Cys1160Ter)
NM_000642.3(AGL):c.3718G>T (p.Gly1240Ter)
NM_000642.3(AGL):c.3793G>T (p.Glu1265Ter)
NM_000642.3(AGL):c.3835A>T (p.Arg1279Ter)
NM_000642.3(AGL):c.3895G>T (p.Glu1299Ter)
NM_000642.3(AGL):c.3899T>G (p.Leu1300Ter)
NM_000642.3(AGL):c.4275T>A (p.Cys1425Ter)
NM_000642.3(AGL):c.454G>T (p.Glu152Ter)
NM_000642.3(AGL):c.458C>A (p.Ser153Ter)
NM_000642.3(AGL):c.516C>A (p.Cys172Ter)
NM_000642.3(AGL):c.680G>A (p.Trp227Ter)
NM_000642.3(AGL):c.681G>A (p.Trp227Ter)
NM_000642.3(AGL):c.867G>A (p.Trp289Ter)
NM_000642.3(AGL):c.991C>T (p.Gln331Ter)
NM_001352514.2(HLCS):c.1132C>T (p.Gln378Ter)
NM_001352514.2(HLCS):c.1250T>A (p.Leu417Ter)
NM_001352514.2(HLCS):c.1434C>A (p.Cys478Ter)
NM_001352514.2(HLCS):c.1642C>T (p.Gln548Ter)
NM_001352514.2(HLCS):c.1719C>A (p.Tyr573Ter)
NM_001352514.2(HLCS):c.1771G>T (p.Glu591Ter)
NM_001352514.2(HLCS):c.1781C>G (p.Ser594Ter)
NM_001352514.2(HLCS):c.1957A>T (p.Lys653Ter)
NM_001352514.2(HLCS):c.2044G>T (p.Gly682Ter)
NM_001352514.2(HLCS):c.2201C>G (p.Ser734Ter)
NM_001352514.2(HLCS):c.542C>A (p.Ser181Ter)
NM_001352514.2(HLCS):c.840C>A (p.Tyr280Ter)
NM_001352514.2(HLCS):c.886G>T (p.Glu296Ter)
NM_012203.2(GRHPR):c.136G>T (p.Glu46Ter)
NM_012203.2(GRHPR):c.306C>A (p.Tyr102Ter)
NM_012203.2(GRHPR):c.404+3_404+6del rs180177309
NM_012203.2(GRHPR):c.457C>T (p.Gln153Ter)
NM_152419.3(HGSNAT):c.1170G>A (p.Trp390Ter)
NM_152419.3(HGSNAT):c.1411G>T (p.Glu471Ter)
NM_152419.3(HGSNAT):c.1567A>T (p.Lys523Ter)
NM_152419.3(HGSNAT):c.157C>T (p.Gln53Ter)
NM_152419.3(HGSNAT):c.220G>T (p.Glu74Ter)
NM_152419.3(HGSNAT):c.265C>T (p.Gln89Ter)
NM_152419.3(HGSNAT):c.283A>T (p.Lys95Ter)
NM_152419.3(HGSNAT):c.391G>T (p.Glu131Ter)
NM_152419.3(HGSNAT):c.433G>T (p.Gly145Ter)
NM_152419.3(HGSNAT):c.469G>T (p.Glu157Ter)
NM_152419.3(HGSNAT):c.784G>T (p.Gly262Ter)
NM_152419.3(HGSNAT):c.925A>T (p.Arg309Ter)

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