ClinVar Miner

List of variants reported as benign for Metaphyseal chondrodysplasia, McKusick type by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NR_003051.4(RMRP):n.179C>T rs7021642 0.17814
NR_003051.4(RMRP):n.158G>C rs7021463 0.17549
NR_003051.3(RMRP):n.-3C>T rs138660393 0.00185
NR_003051.3(RMRP):n.-20C>G rs183974004
NR_003051.3(RMRP):n.-55A>G rs12551232
NR_003051.3(RMRP):n.-5G>A rs7024732
NR_003051.4(RMRP):n.54dup rs151011853

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.