ClinVar Miner

List of variants in gene CLN5 reported as benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_006493.4(CLN5):c.340-136G>A rs605153 0.99234
NM_006493.1(CLN5):c.-115G= rs654196 0.46777
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.339+309T>C rs9573972 0.10982
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.1041T>C (p.Pro347=) rs36038805 0.03060
NM_006493.4(CLN5):c.340-185C>G rs113859549 0.01575
NM_006493.4(CLN5):c.*158C>G rs111327761 0.01567
NM_006493.4(CLN5):c.566-321A>C rs113639365 0.01556
NM_006493.4(CLN5):c.381T>G (p.Thr127=) rs34481987 0.01377
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001 0.00910
NM_006493.4(CLN5):c.705G>A (p.Val235=) rs116531784 0.00163
NM_006493.4(CLN5):c.565+3_565+4dup rs745312608 0.00019
NM_006493.4(CLN5):c.-4C>T rs587780896 0.00009
NM_006493.4(CLN5):c.642A>T (p.Val214=) rs751496223 0.00007
NM_006493.4(CLN5):c.566-55del rs58476086
NM_006493.4(CLN5):c.566-55dup rs58476086
NM_006493.4(CLN5):c.566-97G>A rs67836242
NM_006493.4(CLN5):c.955_956delinsCG (p.Lys319Arg) rs2034348880

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