RS137852835 CEP290
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What This Variant Does
"[OMIM:?]
Associated Conditions
Meckel syndrome
type 4
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Severe hydrocephalus
Encephalocele
Polycystic kidney disease
Leber congenital amaurosis
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Joubert syndrome 5
Senior-Loken syndrome 6
Retinal dystrophy
CEP290-related disorder
Other Variants in CEP290