RS386833757 CC2D2A
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What This Variant Does
"CLNSIG=5
Associated Conditions
Meckel syndrome
type 6
Joubert syndrome 9
Meckel-Gruber syndrome
Joubert syndrome
COACH syndrome 1
Ciliopathy
COACH syndrome 2
Retinitis pigmentosa 93
CC2D2A-related disorder
Meckel syndrome
type 6
Joubert syndrome 9
Meckel-Gruber syndrome
Joubert syndrome
Other Variants in CC2D2A