ClinVar Miner

List of variants reported as pathogenic for anauxetic dysplasia 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
Download table as spreadsheet
NR_003051.3(RMRP):n.-22_-3dup rs1554651411
NR_003051.3(RMRP):n.-25_-12dup rs1554651499
NR_003051.3(RMRP):n.147G>A rs753874439
NR_003051.3(RMRP):n.219A>G rs936059863
NR_003051.3(RMRP):n.243A>G rs551450545
NR_003051.3(RMRP):n.263G>T rs727502774
NR_003051.3(RMRP):n.5C>T rs772443941
NR_003051.3(RMRP):n.64C>T rs786204684
NR_003051.3(RMRP):n.71A>G rs199476103
NR_003051.3(RMRP):n.91_92delinsGC 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.