List of variants in gene CEP290 reported as likely pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter)	rs386834153	0.00013
NM_025114.4(CEP290):c.4437+1G>A	rs760915898	0.00009
NM_025114.4(CEP290):c.4438-3del	rs747323414	0.00004
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter)	rs886042153	0.00003
NM_025114.4(CEP290):c.4705-1G>T	rs777464278	0.00001
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter)	rs1555220625
NM_025114.4(CEP290):c.2351T>A (p.Leu784Ter)	rs1206723575
NM_025114.4(CEP290):c.2594_2595del (p.Leu865fs)	rs1221464366
NM_025114.4(CEP290):c.268A>T (p.Lys90Ter)	rs1057517886
NM_025114.4(CEP290):c.297+3A>G
NM_025114.4(CEP290):c.3012del (p.Glu1005fs)	rs1555213204
NM_025114.4(CEP290):c.3097A>T (p.Lys1033Ter)	rs1555213161
NM_025114.4(CEP290):c.3574-2A>G
NM_025114.4(CEP290):c.369del (p.Gln123fs)	rs773622064
NM_025114.4(CEP290):c.4655AAG[2] (p.Glu1554del)	rs757309583
NM_025114.4(CEP290):c.739_740del (p.Val247fs)	rs1592671618

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