ClinVar Miner

List of variants in gene CLN6 reported as uncertain significance for Neuronal Ceroid-Lipofuscinosis, Recessive

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_017882.3(CLN6):c.*140_*143del rs754855292 0.00002
NM_017882.3(CLN6):c.*132C>T rs886051445 0.00001
NM_017882.3(CLN6):c.*141GT[11] rs3837692
NM_017882.3(CLN6):c.*141GT[12] rs3837692
NM_017882.3(CLN6):c.*141GT[8] rs3837692
NM_017882.3(CLN6):c.349ATC[2] (p.Ile119del) rs886051447

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