ClinVar Miner

List of variants reported as pathogenic for achondrogenesis type IA by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004239.4(TRIP11):c.202-2A>G rs863223281
NM_004239.4(TRIP11):c.2128_2129del (p.Ile710fs) rs1566860640
NM_004239.4(TRIP11):c.2304_2307del (p.Asn768fs) rs1294029121
NM_004239.4(TRIP11):c.3671G>A (p.Trp1224Ter) rs776935608
NM_004239.4(TRIP11):c.790C>T (p.Arg264Ter) rs267607138

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.