ClinVar Miner

List of variants in gene HOXD13 reported as uncertain significance for brachydactyly-syndactyly syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000523.4(HOXD13):c.170C>T (p.Ala57Val) rs755283984 0.00006
NM_000523.4(HOXD13):c.217G>A (p.Gly73Ser) rs544449825 0.00002
NM_000523.4(HOXD13):c.202G>C (p.Ala68Pro) rs760168666
NM_000523.4(HOXD13):c.296C>G (p.Pro99Arg) rs143487752

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.