ClinVar Miner

List of variants in gene TCTN1 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: 9
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NM_001082538.3(TCTN1):c.1454G>A (p.Trp485Ter) rs1593376626
NM_001082538.3(TCTN1):c.221-2A>G rs367543065
NM_001082538.3(TCTN1):c.342-2A>G rs730882221
NM_001082538.3(TCTN1):c.436dup (p.Ile146fs)
NM_001082538.3(TCTN1):c.843+1del rs797046039
NM_001082538.3(TCTN1):c.898C>T (p.Arg300Ter) rs751962801
NM_001082538.3(TCTN1):c.902_929dup (p.Leu311_Val312insGlyGlyHisTer)

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