ClinVar Miner

List of variants in gene MED12 studied for History of neurodevelopmental disorder

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
Download table as spreadsheet
HGVS dbSNP
NM_005120.2(MED12):c.6276_6278dup (p.Gln2115_His2116insGln) rs748394417
NM_005120.3(MED12):c.1167G>A (p.Lys389=) rs374324656
NM_005120.3(MED12):c.1203G>A (p.Pro401=)
NM_005120.3(MED12):c.1253G>A (p.Arg418His) rs1431487428
NM_005120.3(MED12):c.1386G>T (p.Val462=) rs186153976
NM_005120.3(MED12):c.2259G>A (p.Arg753=) rs61752446
NM_005120.3(MED12):c.2271G>A (p.Leu757=)
NM_005120.3(MED12):c.2571G>A (p.Thr857=)
NM_005120.3(MED12):c.2867A>G (p.Lys956Arg) rs1569481527
NM_005120.3(MED12):c.2886C>T (p.Ser962=) rs34761462
NM_005120.3(MED12):c.3204C>T (p.Pro1068=) rs201807437
NM_005120.3(MED12):c.384A>G (p.Gln128=) rs201566660
NM_005120.3(MED12):c.3930A>C (p.Pro1310=) rs5030619
NM_005120.3(MED12):c.3979C>A (p.Pro1327Thr) rs1569481764
NM_005120.3(MED12):c.4179A>C (p.Ser1393=) rs376058351
NM_005120.3(MED12):c.4711G>A (p.Asp1571Asn)
NM_005120.3(MED12):c.4832G>A (p.Arg1611His) rs1569482153
NM_005120.3(MED12):c.5267T>C (p.Leu1756Pro)
NM_005120.3(MED12):c.5535C>T (p.Asn1845=) rs34784349
NM_005120.3(MED12):c.5650G>A (p.Gly1884Ser) rs147354926
NM_005120.3(MED12):c.6204G>A (p.Gln2068=) rs1283568825
NM_005120.3(MED12):c.6208_6210CAG[6] (p.Gln2076del) rs757160341
NM_005120.3(MED12):c.6208_6210CAG[8] (p.Gln2076dup) rs757160341
NM_005120.3(MED12):c.6208_6210CAG[9] (p.Gln2075_Gln2076dup) rs757160341
NM_005120.3(MED12):c.6241_6243CAG[5] (p.Gln2086del) rs786200971
NM_005120.3(MED12):c.6279_6284ACAGCA[3] (p.Gln2114_Gln2115dup) rs761195801
NM_005120.3(MED12):c.6288_6290GCA[5] (p.Gln2114_Gln2115del) rs766775649
NM_005120.3(MED12):c.6321_6335del (p.Gln2111_Gln2115del) rs727503869
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup) rs398124200
NM_005120.3(MED12):c.6443A>G (p.Gln2148Arg) rs1569482852
NM_005120.3(MED12):c.708C>T (p.Thr236=) rs34668206

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.