RS386834053 MKS1
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What This Variant Does
"CLNSIG=4
Associated Conditions
Meckel syndrome
type 1
Leber congenital amaurosis 6
Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 13
Joubert syndrome 28
Meckel syndrome
type 1
Leber congenital amaurosis 6
Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 13
Joubert syndrome 28
Other Variants in MKS1