RS386834159 CEP290

Health Risk Chr 12:88071786
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What This Variant Does
"CLNSIG=4
Associated Conditions
Meckel syndrome
type 4
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Leber congenital amaurosis
Leber congenital amaurosis 10
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
CEP290-related disorder
Meckel syndrome
type 4
Nephronophthisis
Meckel-Gruber syndrome
Other Variants in CEP290
rs137852832 rs62635288 rs2137713030 rs281865192 rs137852833 rs137852834 rs137852835 rs2137919146 rs267606719 rs386834148
Ask Dr. Hemsworth about this variant