List of variants in gene CEP290 reported by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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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.2288T>C (p.Ile763Thr)	rs781177836	0.00002
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter)	rs757641323	0.00001
NM_025114.4(CEP290):c.7027del (p.Val2343fs)	rs2033827549	0.00001
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs)	rs386834148
NM_025114.4(CEP290):c.2506G>T (p.Glu836Ter)	rs2038340977
NM_025114.4(CEP290):c.3103+2dup	rs2500369835
NM_025114.4(CEP290):c.4346T>C (p.Leu1449Pro)	rs2500010347
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs)	rs764309755

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