RS386834158 CEP290
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What This Variant Does
"CLNSIG=255
Associated Conditions
Meckel syndrome
type 4
6 conditions
Retinal dystrophy
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 5
Leber congenital amaurosis
Leber congenital amaurosis 10
Senior-Loken syndrome 6
CEP290-related disorder
Bardet-Biedl syndrome 14
Meckel syndrome
type 4
Other Variants in CEP290