RS886042360 CEP290
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What This Variant Does
"CLNSIG=5
Associated Conditions
Leber congenital amaurosis
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
CEP290-related disorder
Thyroid cancer
nonmedullary
1
Leber congenital amaurosis
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
CEP290-related disorder
Other Variants in CEP290