ClinVar Miner

List of variants in gene RMRP reported as pathogenic for anauxetic dysplasia 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
NR_003051.3(RMRP):n.64C>T rs786204684
NR_003051.3(RMRP):n.71A>G rs199476103
NR_003051.3(RMRP):n.91_92delAGinsGC rs387906533
RMRP, 10-BP DEL, NT254
RMRP, 14-BP INS, NT111
RMRP, 254C-G

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.