ClinVar Miner

List of variants in gene MED12 reported as uncertain significance by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005120.3(MED12):c.5400+6C>T rs192656109 0.00121
NM_005120.3(MED12):c.2613G>A (p.Gln871=) rs372344160 0.00047
NM_005120.3(MED12):c.653C>T (p.Thr218Met) rs369083173 0.00043
NM_005120.3(MED12):c.381G>A (p.Thr127=) rs202125318 0.00039
NM_005120.3(MED12):c.4971T>C (p.Leu1657=) rs398124198 0.00005
NM_005120.3(MED12):c.6285A>G (p.Gln2095=) rs794727673 0.00004
NM_005120.3(MED12):c.2849+14C>T rs398124196 0.00003
NM_005120.3(MED12):c.5316G>A (p.Pro1772=) rs398124199 0.00003
NM_005120.3(MED12):c.1264C>T (p.Arg422Trp) rs368913305 0.00002
NM_005120.3(MED12):c.3219C>T (p.Asp1073=) rs1266845318 0.00001
NM_005120.3(MED12):c.3797G>A (p.Arg1266His) rs587780391 0.00001
NM_005120.3(MED12):c.3354+6A>G rs770027742
NM_005120.3(MED12):c.369C>T (p.Thr123=) rs769484204
NM_005120.3(MED12):c.3844G>A (p.Val1282Met) rs398124197
NM_005120.3(MED12):c.4416-77CTCTT[13] rs56658066
NM_005120.3(MED12):c.4416-77CTCTT[16] rs56658066
NM_005120.3(MED12):c.4620G>A (p.Val1540=) rs756385578
NM_005120.3(MED12):c.4831C>G (p.Arg1611Gly) rs727503868
NM_005120.3(MED12):c.6288GCA[9] (p.Gln2114_Gln2115dup) rs766775649

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.