ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000147.5(FUCA1):c.790C>T (p.Arg264Ter) rs587779399 0.00001
NM_000147.5(FUCA1):c.464C>T (p.Ser155Phe) rs587779398

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