RS886043303 CEP290
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What This Variant Does
"CLNSIG=5
Associated Conditions
Blindness
Global developmental delay
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome
type 4
Joubert syndrome 5
Joubert syndrome 5
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Other Variants in CEP290