ClinVar Miner

List of variants in gene OFD1 reported by Molecular and Clinical Genetics, Institute of Human Genetics P.A.S.

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_003611.3(OFD1):c.2615_2619del (p.Gln872fs) rs1569162748
NM_003611.3(OFD1):c.2746dup (p.Tyr916fs) rs1569163423
NM_003611.3(OFD1):c.2797G>T (p.Glu933Ter) rs1569164733
NM_003611.3(OFD1):c.2815G>T (p.Glu939Ter) rs1569164829

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.