ClinVar Miner

List of variants in gene combination IFT140, LOC105371046 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
NM_014714.4(IFT140):c.1010-1G>A rs770185023
NM_014714.4(IFT140):c.1319T>C (p.Leu440Pro) rs1555491448
NM_014714.4(IFT140):c.1377G>A (p.Trp459Ter) rs140039128
NM_014714.4(IFT140):c.454C>T (p.Leu152Phe) rs1403669200
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) rs201188361
NM_014714.4(IFT140):c.70C>T (p.His24Tyr) rs939722027
NM_014714.4(IFT140):c.853_856TTGA[1] (p.Ile286fs) rs431905506
NM_014714.4(IFT140):c.874G>A (p.Val292Met) rs431905521
NM_014714.4(IFT140):c.932A>G (p.Tyr311Cys) rs387907193
NM_014714.4(IFT140):c.998G>A (p.Cys333Tyr) rs773372123

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.