ClinVar Miner

List of variants reported as benign for Ohdo syndrome and variants

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005120.3(MED12):c.4415+29T>C rs10521349 0.23097
NM_005120.3(MED12):c.736-8A>C rs62609586 0.22423
NM_005120.3(MED12):c.205-38C>T rs12850852 0.22082
NM_005120.3(MED12):c.3930A>C (p.Pro1310=) rs5030619 0.21992
NM_005120.3(MED12):c.3354+27G>C rs5030617 0.15058
NM_005120.3(MED12):c.2422+30C>T rs2075790 0.12776
NM_012330.4(KAT6B):c.929-12A>G rs190502446 0.00571
NM_012330.4(KAT6B):c.1663G>A (p.Gly555Arg) rs146395020 0.00054
NM_005120.3(MED12):c.5805C>T (p.Ser1935=) rs201608537 0.00013

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.