ClinVar Miner

List of variants in gene GNPTAB reported as pathogenic by Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela

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Total variants: 2
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HGVS dbSNP
NM_024312.5(GNPTAB):c.1774G>A (p.Ala592Thr) rs149390820
NM_024312.5(GNPTAB):c.2354T>G (p.Leu785Trp) rs144060383

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