RS201218801 CEP290
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What This Variant Does
"CLNSIG=4
Associated Conditions
Joubert syndrome 5
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome
type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Inborn genetic diseases
CEP290-related disorder
Malignant tumor of urinary bladder
Joubert syndrome 5
Nephronophthisis
Joubert syndrome
Other Variants in CEP290