List of variants in gene CEP290 reported as uncertain significance by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

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.2980G>A (p.Glu994Lys)	rs182369459	0.00241
NM_025114.4(CEP290):c.251-11T>A	rs200666995	0.00198
NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn)	rs184143186	0.00138
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly)	rs77778467	0.00022
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys)	rs202159966	0.00016
NM_025114.4(CEP290):c.6629G>A (p.Arg2210His)	rs371833544	0.00011
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys)	rs373307908	0.00010
NM_025114.4(CEP290):c.4257C>A (p.Asp1419Glu)	rs771898047	0.00001
NM_025114.4(CEP290):c.970A>G (p.Ile324Val)	rs1555224610

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