ClinVar Miner

List of variants in gene MFSD8 reported as likely pathogenic for Neuronal ceroid lipofuscinosis 7; Macular dystrophy with central cone involvement

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Total variants: 1
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HGVS dbSNP
NM_152778.3(MFSD8):c.1444C>T (p.Arg482Ter) rs724159971

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