ClinVar Miner

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

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP
NM_001082538.2(TCTN1):c.-140A>G rs886048956
NM_001082538.2(TCTN1):c.-84T>C rs886048957
NM_001082538.3(TCTN1):c.-46G>C rs538932401
NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val) rs75714509
NM_001082538.3(TCTN1):c.1291G>C (p.Val431Leu) rs188817098
NM_001082538.3(TCTN1):c.14G>A (p.Gly5Asp) rs572300029
NM_001082538.3(TCTN1):c.1522C>T (p.Leu508Phe) rs1016934113
NM_001082538.3(TCTN1):c.1676C>T (p.Ala559Val) rs373723058
NM_001082538.3(TCTN1):c.211G>A (p.Val71Ile) rs776696098
NM_001082538.3(TCTN1):c.232T>C (p.Cys78Arg) rs1565956183
NM_001082538.3(TCTN1):c.298G>A (p.Val100Met) rs145478892
NM_001082538.3(TCTN1):c.305T>G (p.Phe102Cys)
NM_001082538.3(TCTN1):c.327A>G (p.Ser109=) rs140230455
NM_001082538.3(TCTN1):c.364C>A (p.Gln122Lys) rs886048958
NM_001082538.3(TCTN1):c.574T>A (p.Tyr192Asn) rs370252911
NM_001082538.3(TCTN1):c.890C>T (p.Thr297Met) rs200460700
NM_001082538.3(TCTN1):c.960C>T (p.Cys320=) rs145970332
NM_001082538.3(TCTN1):c.987C>T (p.Tyr329=) rs371066430

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.