ClinVar Miner

List of variants in gene MFSD8 reported as uncertain significance for Neuronal Ceroid-Lipofuscinosis, Recessive

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001371596.2(MFSD8):c.*2386del rs143272176 0.00020
NM_001371596.2(MFSD8):c.*469dup rs746048384
NM_001371596.2(MFSD8):c.1516C>G (p.Leu506Val) rs570757797

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