RS777464278 CEP290
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What This Variant Does
"CLNSIG=4
Associated Conditions
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Joubert syndrome 5
Leber congenital amaurosis
CEP290-related disorder
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Joubert syndrome 5
Leber congenital amaurosis
CEP290-related disorder
Bardet-Biedl syndrome 14
Other Variants in CEP290