ClinVar Miner

List of variants in gene TCTN1 reported as pathogenic for Joubert syndrome

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_001082538.3(TCTN1):c.221-2A>G rs367543065
NM_001082538.3(TCTN1):c.342-2A>G rs730882221
NM_001082538.3(TCTN1):c.843+1del rs797046039
NM_001082538.3(TCTN1):c.898C>T (p.Arg300Ter) rs751962801

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