ClinVar Miner

List of variants in gene combination CLN5, FBXL3 reported as benign for Neuronal ceroid lipofuscinosis 5

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Total variants: 11
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NM_006493.4(CLN5):c.*1132A>G rs80200123
NM_006493.4(CLN5):c.*1279G>C rs9635010
NM_006493.4(CLN5):c.*155C>T rs700365
NM_006493.4(CLN5):c.*158C>G rs111327761
NM_006493.4(CLN5):c.*292G>A rs700363
NM_006493.4(CLN5):c.*33A>G rs9573974
NM_006493.4(CLN5):c.1041T>C (p.Pro347=) rs36038805
NM_006493.4(CLN5):c.381T>G (p.Thr127=) rs34481987
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg) rs1800209

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