ClinVar Miner

List of variants studied for Mungan syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006265.3(RAD21):c.1440T>C (p.Ala480=) rs1050838 0.13137
NM_006265.3(RAD21):c.688+8G>A rs2921787 0.11506
NM_006265.3(RAD21):c.-32-1G>A rs16889042 0.00127
NM_006265.3(RAD21):c.1352T>G (p.Leu451Arg) rs144953114 0.00034
NM_006265.3(RAD21):c.1864G>A (p.Ala622Thr) rs775266057 0.00001
NM_006265.3(RAD21):c.274+26GTT[5] rs112562183
NM_006265.3(RAD21):c.815-27dup rs35902828
NM_006265.3(RAD21):c.815-5del rs35902828
NM_006265.3(RAD21):c.815-6_815-5del rs35902828

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.