ClinVar Miner

List of variants reported as benign for Neuronal ceroid lipofuscinosis 5 by Genome-Nilou Lab

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg) rs1800209 0.19521
NM_006493.4(CLN5):c.-144C>T rs77416795 0.12832
NM_006493.4(CLN5):c.*33A>G rs9573974 0.08077
NM_006493.4(CLN5):c.-76A>G rs7987664 0.07840
NM_006493.4(CLN5):c.173+8C>T rs9565308 0.03653
NM_006493.4(CLN5):c.87C>G (p.Ala29=) rs138037471 0.02484
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001 0.00910
NM_006493.4(CLN5):c.-99G>C rs202118652 0.00208
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg) rs199727787 0.00116

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