ClinVar Miner

List of variants in gene MED12 reported as uncertain significance for FG syndrome 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005120.3(MED12):c.4864-6C>T rs1018026145 0.00005
NM_005120.3(MED12):c.4382C>T (p.Ser1461Leu) rs1458136598 0.00001
NM_005120.3(MED12):c.5758G>A (p.Gly1920Ser) rs1415832392 0.00001
NM_005120.3(MED12):c.6186G>C (p.Gln2062His) rs1362044936 0.00001
NC_000023.10:g.(?_70338585)_(70362088_?)del
NC_000023.10:g.(?_70338585)_(70362088_?)dup
NC_000023.10:g.(?_70348944)_(70350084_?)dup
NC_000023.10:g.(?_70348958)_(70350070_?)dup
NC_000023.10:g.(?_70348964)_(70350064_?)dup
NC_000023.11:g.(?_71118745)_(71142228_?)dup
NM_005120.3(MED12):c.397-12A>G rs192515277
NM_005120.3(MED12):c.4048-3C>T
NM_005120.3(MED12):c.4069C>T (p.Arg1357Cys)
NM_005120.3(MED12):c.6241CAG[7] (p.Gln2086dup) rs786200971
NM_005120.3(MED12):c.6352CAGCAACAG[3] (p.Gln2121_Gln2123dup) rs1433422316
NM_005120.3(MED12):c.6529_6530delinsCT (p.Tyr2177Leu) rs2092350107
NM_005120.3(MED12):c.728T>C (p.Met243Thr)
NM_005120.3(MED12):c.886C>T (p.Arg296Trp)

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.