RS747835249 CEP290
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What This Variant Does
"CLNSIG=5
Associated Conditions
Retinal dystrophy
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome
type 4
Senior-Loken syndrome 6
Joubert syndrome 5
CEP290-related disorder
Retinal dystrophy
Joubert syndrome
Meckel-Gruber syndrome
Other Variants in CEP290