RS587783017 CEP290
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What This Variant Does
"CLNSIG=5
Associated Conditions
Leber congenital amaurosis 10
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Retinal dystrophy
Leber congenital amaurosis
CEP290-related disorder
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome
type 4
Inborn genetic diseases
Nephronophthisis
Joubert syndrome
Other Variants in CEP290