ClinVar Miner

List of variants studied for autosomal recessive osteopetrosis 5 by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014028.4(OSTM1):c.36T>A (p.Cys12Ter) rs119460973
NM_014028.4(OSTM1):c.415_416del (p.Gln140fs) rs794727287
NM_014028.4(OSTM1):c.949+5G>A rs1562370077

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.