ClinVar Miner

List of variants reported as pathogenic for carbohydrate metabolism disease by Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_000046.5(ARSB):c.979C>T (p.Arg327Ter) rs773492223
NM_000507.4(FBP1):c.1_170del (p.Met1fs) rs1563991556
NM_000512.5(GALNS):c.1000C>T (p.Gln334Ter) rs1567526805

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