RS1057519165 CEP290
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What This Variant Does
"CLNSIG=4
Associated Conditions
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
Retinal dystrophy
Leber congenital amaurosis 10
Joubert syndrome 5
Senior-Loken syndrome 6
Meckel syndrome
type 4
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Joubert syndrome
Other Variants in CEP290