RS62638180 CEP290
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What This Variant Does
"aka c.5813_5817delCTTTA (p.Thr1938Asnfs) Listed in ClinVar but without known significance
Associated Conditions
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Leber congenital amaurosis
Bardet-Biedl syndrome 14
Meckel syndrome
type 4
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
CEP290-related disorder
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Leber congenital amaurosis
Other Variants in CEP290