List of variants in gene TCTN1 reported as pathogenic for ciliopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 28

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001082538.3(TCTN1):c.26_29dup (p.Val11fs)	rs1275375836	0.00001
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.1385dup (p.Trp463fs)	rs2136171586
NM_001082538.3(TCTN1):c.1418del (p.Pro473fs)	rs757348545
NM_001082538.3(TCTN1):c.1454G>A (p.Trp485Ter)	rs1593376626
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.221-2A>G	rs367543065
NM_001082538.3(TCTN1):c.256_257del (p.Gln86fs)
NM_001082538.3(TCTN1):c.32_43del (p.Val11_Leu14del)	rs2135826994
NM_001082538.3(TCTN1):c.342-2A>G	rs730882221
NM_001082538.3(TCTN1):c.378_381dup (p.Ser128fs)
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.843+1del	rs797046039
NM_001082538.3(TCTN1):c.902_929dup (p.Thr310_Leu311insGlyGlyHisTer)	rs2066879614
NM_001082538.3(TCTN1):c.962del (p.Val321fs)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.