RS137852832 CEP290
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What This Variant Does
"[OMIM:?]
Associated Conditions
Joubert syndrome 5
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Bardet-Biedl syndrome 14
Meckel syndrome
type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Retinitis pigmentosa
Retinal dystrophy
type 6
Leber congenital amaurosis
COG7 congenital disorder of glycosylation
Abnormality of the nervous system
Other Variants in CEP290