ClinVar Miner

List of variants studied for acromesomelic dysplasia, Grebe type

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
GDF5, 1-BP DEL, 1144G
GDF5, 1-BP INS, 297C
NM_000557.5(GDF5):c.1144del (p.Ala382fs) rs1568731526
NM_000557.5(GDF5):c.1199G>A (p.Cys400Tyr) rs74315387

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.