ClinVar Miner

List of variants reported as likely pathogenic for carbohydrate metabolism disease by Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_000035.4(ALDOB):c.887G>A (p.Trp296Ter)
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln) rs776814144
NM_000108.5(DLD):c.684+1G>T rs780025714
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175
NM_000152.5(GAA):c.1979G>A (p.Arg660His) rs374143224
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000291.4(PGK1):c.758T>C (p.Ile253Thr) rs137852534
NM_000308.4(CTSA):c.601-2A>G rs778159802
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys) rs566453434
NM_000512.5(GALNS):c.423-862C>T rs1597575641
NM_001370658.1(BTD):c.1568A>G (p.Asp523Gly) rs1050035768
NM_001467.6(SLC37A4):c.963_964del (p.Val322fs) rs1592109970
NM_031229.4(RBCK1):c.461-2A>G

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