RS62640570 CEP290
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What This Variant Does
"CLNSIG=5
Associated Conditions
Meckel syndrome
type 4
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Leber congenital amaurosis 10
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Meckel-Gruber syndrome
Joubert syndrome 5
Nephronophthisis
Joubert syndrome
Leber congenital amaurosis
CEP290-related disorder
Other Variants in CEP290