ClinVar Miner

List of variants reported as benign for Neuronal ceroid lipofuscinosis 5 by Illumina Laboratory Services, Illumina

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Total variants: 14
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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.*292G>A rs700363 0.12838
NM_006493.4(CLN5):c.-144C>T rs77416795 0.12832
NM_006493.4(CLN5):c.*155C>T rs700365 0.09182
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.*1279G>C rs9635010 0.04936
NM_006493.4(CLN5):c.173+8C>T rs9565308 0.03653
NM_006493.4(CLN5):c.1041T>C (p.Pro347=) rs36038805 0.03060
NM_006493.4(CLN5):c.87C>G (p.Ala29=) rs138037471 0.02484
NM_006493.4(CLN5):c.*158C>G rs111327761 0.01567
NM_006493.4(CLN5):c.381T>G (p.Thr127=) rs34481987 0.01377
NM_006493.4(CLN5):c.*1132A>G rs80200123 0.01375
NM_006493.4(CLN5):c.*1159G>A rs75441116 0.00513

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