ClinVar Miner

List of variants in gene TCTN1 reported as pathogenic for Joubert syndrome 1

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001082538.3(TCTN1):c.736A>T (p.Lys246Ter) rs748215804 0.00001
NM_001082538.3(TCTN1):c.898C>T (p.Arg300Ter) rs751962801 0.00001
NC_000012.11:g.(?_111064147)_(111064317_?)del
NC_000012.11:g.(?_111064147)_(111074326_?)del
NC_000012.12:g.(?_110626342)_(110642409_?)del
NM_001082538.3(TCTN1):c.1418del (p.Pro473fs) rs757348545
NM_001082538.3(TCTN1):c.1465del (p.His489fs) rs2136172776
NM_001082538.3(TCTN1):c.1505dup (p.Leu502fs)
NM_001082538.3(TCTN1):c.1527del (p.Ala511fs) rs2136195903
NM_001082538.3(TCTN1):c.156del (p.Arg52fs) rs766816100
NM_001082538.3(TCTN1):c.1775_1778del (p.Val592fs) rs1353535488
NM_001082538.3(TCTN1):c.209_210del (p.Pro70fs)
NM_001082538.3(TCTN1):c.210dup (p.Val71fs)
NM_001082538.3(TCTN1):c.256_257del (p.Gln86fs)
NM_001082538.3(TCTN1):c.411_412del (p.Arg138fs) rs1398514249
NM_001082538.3(TCTN1):c.436dup (p.Ile146fs) rs2065847886
NM_001082538.3(TCTN1):c.822+1G>A
NM_001082538.3(TCTN1):c.843+1G>C rs2066579666
NM_001082538.3(TCTN1):c.902_929dup (p.Thr310_Leu311insGlyGlyHisTer) rs2066879614
NM_001082538.3(TCTN1):c.962del (p.Val321fs)

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