ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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NM_000147.4(FUCA1):c.464C>T (p.Ser155Phe) rs587779398
NM_000147.4(FUCA1):c.790C>T (p.Arg264Ter) rs587779399
NM_000181.4(GUSB):c.530C>T (p.Thr177Ile) rs587779400
NM_000203.5(IDUA):c.1874A>G (p.Tyr625Cys) rs587779401
NM_000308.3(CTSA):c.284del (p.Pro95fs) rs587779402
NM_000308.3(CTSA):c.448G>A (p.Val150Met) rs137854545

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