ClinVar Miner

List of variants in gene TCTN3 studied for Joubert syndrome

Included ClinVar conditions (58):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
NM_015631.6(TCTN3):c.1196G>A (p.Ser399Asn)
NM_015631.6(TCTN3):c.1271T>G (p.Val424Gly) rs200705429
NM_015631.6(TCTN3):c.1423_1429del (p.Arg475fs)
NM_015631.6(TCTN3):c.1425G>A (p.Arg475=) rs144543830
NM_015631.6(TCTN3):c.211G>T (p.Val71Leu) rs138495428
NM_015631.6(TCTN3):c.3G>A (p.Met1Ile) rs745688122
NM_015631.6(TCTN3):c.630T>C (p.Ala210=) rs41299157
NM_015631.6(TCTN3):c.728A>G (p.Asn243Ser) rs1555270274
NM_015631.6(TCTN3):c.818A>G (p.Asn273Ser)
NM_015631.6(TCTN3):c.925G>T (p.Ala309Ser) rs55859130
NM_015631.6(TCTN3):c.940G>A (p.Gly314Arg) rs793888508
NM_015631.6(TCTN3):c.946A>G (p.Thr316Ala) rs200042949
NM_015631.6(TCTN3):c.9C>A (p.Thr3=) rs1471002377

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.