RS587783009 CEP290
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What This Variant Does
"CLNSIG=5
Associated Conditions
Leber congenital amaurosis 10
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Retinal dystrophy
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome
type 4
CEP290-related disorder
type 3
Leber congenital amaurosis 10
Joubert syndrome
Meckel-Gruber syndrome
Other Variants in CEP290