RS117852025 CEP290

Health Risk Chr 12:88060950 snv missense variant
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Associated Conditions
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Meckel syndrome
type 4
Joubert syndrome 5
Leber congenital amaurosis 10
Leber congenital amaurosis
Intellectual disability
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Population Frequencies
gnomAD ALL
0.8%
1kG AFR
100%
1kG ALL
99.4%
1kG AMR
99.7%
1kG EAS
100%
1kG EUR
99.1%
1kG SAS
98.2%
Other Variants in CEP290
rs137852832 rs62635288 rs2137713030 rs281865192 rs137852833 rs137852834 rs137852835 rs2137919146 rs267606719 rs386834148
Ask Dr. Hemsworth about this variant