ClinVar Miner

List of variants reported as pathogenic for Neuronal ceroid lipofuscinosis 7 by Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris

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Total variants: 2
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HGVS dbSNP
NM_152778.3(MFSD8):c.1444C>T (p.Arg482Ter) rs724159971
NM_152778.3(MFSD8):c.416G>A (p.Arg139His) rs749704755

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