ClinVar Miner

List of variants reported as likely pathogenic for Neuronal ceroid lipofuscinosis 8 by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser) rs142269885 0.00083
NM_018941.4(CLN8):c.806A>T (p.Glu269Val) rs139003032 0.00016

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