RS886042153 CEP290
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What This Variant Does
"CLNSIG=5
Associated Conditions
Cone-rod dystrophy
Joubert syndrome 1
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
CEP290-related disorder
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Meckel syndrome
type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Retinal dystrophy
Cone-rod dystrophy
Joubert syndrome 1
Other Variants in CEP290