ClinVar Miner

List of variants reported as uncertain significance for Neuronal ceroid lipofuscinosis 8 by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_018941.4(CLN8):c.416A>G (p.His139Arg)	rs1195769874	0.00001
NM_018941.4(CLN8):c.637del (p.Trp213fs)	rs2129015232

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