List of variants reported as pathogenic for CEP290-related ciliopathy by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter)	rs62638179	0.00006
NM_025114.4(CEP290):c.4438-3del	rs747323414	0.00004
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter)	rs757641323	0.00001
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs)	rs386834148
NM_025114.4(CEP290):c.2506G>T (p.Glu836Ter)
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs)	rs764309755
NM_025114.4(CEP290):c.7027del (p.Val2343fs)	rs2033827549
NM_025114.4(CEP290):c.7282_7286dup (p.Tyr2429Ter)	rs2136546576

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