ClinVar Miner

List of variants studied for Neuronal ceroid lipofuscinosis 5 by Genetic Services Laboratory, University of Chicago

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_006493.4(CLN5):c.466C>T (p.Pro156Ser) rs386833977
NM_006493.4(CLN5):c.510_514dup (p.Asp172fs) rs1555274005
NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer) rs587780315

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