RS281865192 CEP290
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What This Variant Does
"rs281865192, also known as c.2991 1655A>
Associated Conditions
Leber congenital amaurosis 10
Retinitis pigmentosa
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome
type 4
Senior-Loken syndrome 6
Retinal dystrophy
Joubert syndrome 1
Intellectual disability
CEP290-related disorder
Leber congenital amaurosis
Other Variants in CEP290