ClinVar Miner

List of variants in gene IFT172 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (961):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP
NC_000002.12:g.(?_27462701)_(27463181_?)del
NM_015662.3(IFT172):c.1232T>A (p.Ile411Asn) rs587777085
NM_015662.3(IFT172):c.2765dup (p.Tyr922Ter) rs750338419
NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys) rs587777079
NM_015662.3(IFT172):c.811C>T (p.Arg271Ter) rs1250676888

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.