ClinVar Miner

List of variants in gene DNAJC5 reported as pathogenic for Ceroid lipofuscinosis neuronal 4B autosomal dominant

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Total variants: 3
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NM_025219.3(DNAJC5):c.343_345CTC[1] (p.Leu116del) rs587776892
NM_025219.3(DNAJC5):c.344T>G (p.Leu115Arg) rs387907043
NM_025219.3(DNAJC5):c.370_399dup (p.Cys124_Cys133dup)

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