ClinVar Miner

List of variants reported as pathogenic for carbohydrate metabolism disease by UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser) rs80356482
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) rs199801029
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829

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