RS386834149 CEP290

Health Risk Chr 12:88120185
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What This Variant Does
"CLNSIG=5
Associated Conditions
Meckel syndrome
type 4
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
See cases
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome
type 4
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Other Variants in CEP290
rs137852832 rs62635288 rs2137713030 rs281865192 rs137852833 rs137852834 rs137852835 rs2137919146 rs267606719 rs386834148
Ask Dr. Hemsworth about this variant