RS758329611 CEP290
Upload your DNA to see your genotype for this variant.
What This Variant Does
"CLNSIG=5
Associated Conditions
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis 10
Leber congenital amaurosis
Meckel syndrome
type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
CEP290-related disorder
Retinal dystrophy
See cases
Joubert syndrome
Meckel-Gruber syndrome
Other Variants in CEP290