ClinVar Miner

List of variants in gene CEP41 reported as pathogenic for Joubert syndrome

Included ClinVar conditions (64):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
CEP41, 3-BP DEL, IVS1DS, 97GAG
NM_018718.3(CEP41):c.33+2T>G rs1584916464
NM_018718.3(CEP41):c.423-2A>C rs781815473
NM_018718.3(CEP41):c.423-2A>G
NM_018718.3(CEP41):c.83C>A (p.Ser28Ter) rs1584901211

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