RS62638179 CEP290
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What This Variant Does
"CLNSIG=4
Associated Conditions
CEP290-related disorder
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Senior-Loken syndrome 6
Leber congenital amaurosis
Retinitis pigmentosa
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
CEP290-related ciliopathy
Meckel syndrome
type 4
Joubert syndrome 5
CEP290-related disorder
Nephronophthisis
Other Variants in CEP290