ClinVar Miner

List of variants reported as pathogenic for autosomal recessive osteopetrosis 2

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003701.4(TNFSF11):c.532+4_532+8del rs2137905441
NM_003701.4(TNFSF11):c.596T>A (p.Met199Lys) rs121909072
NM_003701.4(TNFSF11):c.828_829del (p.Val277fs) rs863223288
NM_003701.4(TNFSF11):c.929del (p.Ala310fs) rs2137916719

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.