List of variants in gene CEP290 reported as likely pathogenic by Blueprint Genetics

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.4813-2A>G	rs369523378	0.00046
NM_025114.4(CEP290):c.1347dup (p.Asp450fs)	rs774490795
NM_025114.4(CEP290):c.2818-2A>G	rs2038012556
NM_025114.4(CEP290):c.3220G>T (p.Glu1074Ter)	rs2037229663
NM_025114.4(CEP290):c.4490C>A (p.Ser1497Ter)	rs1345994179
NM_025114.4(CEP290):c.5254C>T (p.Arg1752Trp)	rs748471942
NM_025114.4(CEP290):c.5586+1G>C	rs2035880971
NM_025114.4(CEP290):c.6836T>A (p.Leu2279Ter)	rs2033943937
NM_025114.4(CEP290):c.6892C>T (p.Gln2298Ter)	rs2033937635

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