RS200587974 CEP290

Health Risk Chr 12:88129875
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Associated Conditions
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Joubert syndrome 5
Meckel syndrome
type 4
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Leber congenital amaurosis
CEP290-related disorder
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Joubert syndrome 5
Other Variants in CEP290
rs137852832 rs62635288 rs2137713030 rs281865192 rs137852833 rs137852834 rs137852835 rs2137919146 rs267606719 rs386834148
Ask Dr. Hemsworth about this variant