RS758550675 CEP290
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What This Variant Does
"CLNSIG=5
Associated Conditions
Joubert syndrome 5
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Leber congenital amaurosis
Bardet-Biedl syndrome 14
Meckel syndrome
type 4
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Inborn genetic diseases
CEP290-related disorder
CEP290-related ciliopathy
Joubert syndrome 5
Nephronophthisis
Other Variants in CEP290