ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_000405.5(GM2A):c.333del (p.Cys112fs) rs587779405
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=) rs587779406
NM_000520.6(HEXA):c.718_719insT (p.Lys240fs) rs587779407

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