ClinVar Miner

List of variants in gene CEP104 reported as pathogenic for Joubert syndrome

Included ClinVar conditions (58):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NC_000001.10:g.(?_3731946)_(3768991_?)del
NM_014704.4(CEP104):c.1082_1091del (p.Pro361fs) rs776094913
NM_014704.4(CEP104):c.1328_1329insT (p.Tyr444fs) rs869025277
NM_014704.4(CEP104):c.2572-2A>G rs869025278
NM_014704.4(CEP104):c.496C>T (p.Arg166Ter) rs374574638
NM_014704.4(CEP104):c.735+2T>C rs869025276
NM_014704.4(CEP104):c.759T>G (p.Tyr253Ter) rs372048855

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