ClinVar Miner

List of variants in gene MED12 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 191
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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.1849A>G (p.Thr617Ala) rs765417606 0.00009
NM_005120.3(MED12):c.1033C>T (p.Pro345Ser) rs761157306 0.00005
NM_005120.3(MED12):c.4880G>A (p.Arg1627His) rs759857680 0.00005
NM_005120.3(MED12):c.4971T>C (p.Leu1657=) rs398124198 0.00005
NM_005120.3(MED12):c.6139A>G (p.Ile2047Val) rs748668603 0.00005
NM_005120.3(MED12):c.3721A>G (p.Thr1241Ala) rs1028631372 0.00004
NM_005120.3(MED12):c.5966G>A (p.Arg1989His) rs1569482448 0.00004
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.3782G>A (p.Arg1261Gln) rs1388327076 0.00003
NM_005120.3(MED12):c.5316G>A (p.Pro1772=) rs398124199 0.00003
NM_005120.3(MED12):c.1132G>A (p.Val378Ile) rs779969587 0.00002
NM_005120.3(MED12):c.1264C>T (p.Arg422Trp) rs368913305 0.00002
NM_005120.3(MED12):c.1994C>G (p.Ser665Cys) rs764981858 0.00002
NM_005120.3(MED12):c.3110C>T (p.Thr1037Met) rs377078179 0.00002
NM_005120.3(MED12):c.3210G>T (p.Arg1070Ser) rs863223704 0.00002
NM_005120.3(MED12):c.3785G>A (p.Arg1262Lys) rs202120461 0.00002
NM_005120.3(MED12):c.439G>A (p.Ala147Thr) rs748453083 0.00002
NM_005120.3(MED12):c.4898A>G (p.Glu1633Gly) rs1295435834 0.00002
NM_005120.3(MED12):c.5585G>A (p.Arg1862His) rs773713291 0.00002
NM_005120.3(MED12):c.5653G>A (p.Val1885Ile) rs762659794 0.00002
NM_005120.3(MED12):c.5893C>T (p.Pro1965Ser) rs2092336419 0.00002
NM_005120.3(MED12):c.6121G>A (p.Gly2041Ser) rs901541873 0.00002
NM_005120.3(MED12):c.6526C>T (p.Arg2176Cys) rs777818556 0.00002
NM_005120.3(MED12):c.1253G>A (p.Arg418His) rs1431487428 0.00001
NM_005120.3(MED12):c.1996A>G (p.Met666Val) rs1401003961 0.00001
NM_005120.3(MED12):c.2116G>A (p.Val706Ile) rs1300750523 0.00001
NM_005120.3(MED12):c.2137C>T (p.Pro713Ser) rs772484830 0.00001
NM_005120.3(MED12):c.2312T>C (p.Ile771Thr) rs778325168 0.00001
NM_005120.3(MED12):c.2450G>A (p.Arg817His) rs749801457 0.00001
NM_005120.3(MED12):c.3219C>T (p.Asp1073=) rs1266845318 0.00001
NM_005120.3(MED12):c.3745C>T (p.Leu1249Phe) rs1422779785 0.00001
NM_005120.3(MED12):c.3797G>A (p.Arg1266His) rs587780391 0.00001
NM_005120.3(MED12):c.4021C>T (p.Arg1341Trp) rs777250096 0.00001
NM_005120.3(MED12):c.4159A>G (p.Ile1387Val) rs1366165823 0.00001
NM_005120.3(MED12):c.4702G>A (p.Gly1568Ser) rs1218546722 0.00001
NM_005120.3(MED12):c.4879C>T (p.Arg1627Cys) rs776748297 0.00001
NM_005120.3(MED12):c.5134C>T (p.Arg1712Trp) rs763233945 0.00001
NM_005120.3(MED12):c.5203C>T (p.Arg1735Cys) rs778386823 0.00001
NM_005120.3(MED12):c.5584C>T (p.Arg1862Cys) rs200279192 0.00001
NM_005120.3(MED12):c.5612G>A (p.Arg1871Gln) rs761581305 0.00001
NM_005120.3(MED12):c.5826+3A>G rs1302805754 0.00001
NM_005120.3(MED12):c.6017A>C (p.Tyr2006Ser) rs769232520 0.00001
NM_005120.2(MED12):c.6300_6329del rs773480549
NM_005120.3(MED12):c.1053G>T (p.Met351Ile) rs2147780368
NM_005120.3(MED12):c.1070C>T (p.Pro357Leu) rs2147780460
NM_005120.3(MED12):c.1088G>T (p.Ser363Ile) rs2147780535
NM_005120.3(MED12):c.1247A>T (p.Gln416Leu)
NM_005120.3(MED12):c.133T>G (p.Phe45Val) rs2147770734
NM_005120.3(MED12):c.1745-3C>T rs1602296746
NM_005120.3(MED12):c.1753C>G (p.Arg585Gly)
NM_005120.3(MED12):c.1810A>T (p.Ile604Phe)
NM_005120.3(MED12):c.1892C>T (p.Pro631Leu) rs1057524167
NM_005120.3(MED12):c.1926T>A (p.Asp642Glu)
NM_005120.3(MED12):c.1943A>C (p.Glu648Ala)
NM_005120.3(MED12):c.1977T>G (p.Asp659Glu)
NM_005120.3(MED12):c.1993T>C (p.Ser665Pro)
NM_005120.3(MED12):c.1994C>T (p.Ser665Phe) rs764981858
NM_005120.3(MED12):c.204+5G>C rs2147771855
NM_005120.3(MED12):c.2093G>A (p.Ser698Asn) rs863223710
NM_005120.3(MED12):c.2123AGG[1] (p.Glu709del) rs1261680398
NM_005120.3(MED12):c.221GCA[1] (p.Ser75del)
NM_005120.3(MED12):c.2252A>G (p.Asn751Ser) rs863223700
NM_005120.3(MED12):c.2266G>A (p.Val756Ile)
NM_005120.3(MED12):c.2275G>A (p.Gly759Arg)
NM_005120.3(MED12):c.2320A>G (p.Ile774Val) rs2147793183
NM_005120.3(MED12):c.2443C>T (p.Arg815Trp)
NM_005120.3(MED12):c.2516A>G (p.Tyr839Cys) rs2147795814
NM_005120.3(MED12):c.2568C>A (p.Ile856=)
NM_005120.3(MED12):c.2596C>T (p.His866Tyr) rs2147796486
NM_005120.3(MED12):c.2635C>T (p.Leu879Phe) rs2147796576
NM_005120.3(MED12):c.2714C>G (p.Ala905Gly)
NM_005120.3(MED12):c.2729A>G (p.Lys910Arg)
NM_005120.3(MED12):c.272G>T (p.Arg91Leu) rs1057524478
NM_005120.3(MED12):c.2735C>T (p.Ser912Leu) rs2147797835
NM_005120.3(MED12):c.2750G>A (p.Ser917Asn) rs1556336129
NM_005120.3(MED12):c.2791C>T (p.Arg931Trp) rs2147798245
NM_005120.3(MED12):c.2836C>G (p.Gln946Glu) rs2147798531
NM_005120.3(MED12):c.2868G>C (p.Lys956Asn) rs2147799309
NM_005120.3(MED12):c.2963A>G (p.Lys988Arg) rs2147799533
NM_005120.3(MED12):c.3067A>G (p.Ile1023Val) rs879255526
NM_005120.3(MED12):c.3122A>G (p.Lys1041Arg)
NM_005120.3(MED12):c.3205G>A (p.Asp1069Asn)
NM_005120.3(MED12):c.3251A>C (p.Tyr1084Ser)
NM_005120.3(MED12):c.3284T>C (p.Val1095Ala) rs2147802401
NM_005120.3(MED12):c.3354+6A>G rs770027742
NM_005120.3(MED12):c.3405C>T (p.Leu1135=)
NM_005120.3(MED12):c.3410C>G (p.Ala1137Gly) rs2147803636
NM_005120.3(MED12):c.3479G>A (p.Cys1160Tyr) rs2092310486
NM_005120.3(MED12):c.34C>T (p.Arg12Trp)
NM_005120.3(MED12):c.3509G>A (p.Arg1170Gln) rs2147804813
NM_005120.3(MED12):c.3572A>T (p.Asp1191Val) rs2147804957
NM_005120.3(MED12):c.3641G>A (p.Arg1214His) rs2092311084
NM_005120.3(MED12):c.3647T>C (p.Val1216Ala) rs2147805932
NM_005120.3(MED12):c.3667G>A (p.Val1223Ile) rs1057524217
NM_005120.3(MED12):c.3691+5G>A rs2147806182
NM_005120.3(MED12):c.3691+8G>A rs2092311203
NM_005120.3(MED12):c.369C>T (p.Thr123=) rs769484204
NM_005120.3(MED12):c.3760G>A (p.Gly1254Arg) rs1459632977
NM_005120.3(MED12):c.3773G>T (p.Ser1258Ile) rs2147807409
NM_005120.3(MED12):c.3775G>A (p.Gly1259Ser)
NM_005120.3(MED12):c.3779G>T (p.Gly1260Val) rs2147807429
NM_005120.3(MED12):c.3844G>A (p.Val1282Met) rs398124197
NM_005120.3(MED12):c.3851G>A (p.Arg1284His) rs979229015
NM_005120.3(MED12):c.3860G>T (p.Cys1287Phe)
NM_005120.3(MED12):c.3868-21C>A
NM_005120.3(MED12):c.3868-7T>A rs587780392
NM_005120.3(MED12):c.3883C>T (p.Arg1295Cys) rs863223706
NM_005120.3(MED12):c.3920T>C (p.Leu1307Pro) rs2147808430
NM_005120.3(MED12):c.3928_3930delinsTCC (p.Pro1310Ser) rs863223712
NM_005120.3(MED12):c.3955C>T (p.Arg1319Cys) rs901783069
NM_005120.3(MED12):c.4011A>C (p.Glu1337Asp) rs2147808786
NM_005120.3(MED12):c.4022G>A (p.Arg1341Gln)
NM_005120.3(MED12):c.4097T>C (p.Met1366Thr)
NM_005120.3(MED12):c.4144A>G (p.Ile1382Val)
NM_005120.3(MED12):c.4210G>A (p.Ala1404Thr) rs2147813494
NM_005120.3(MED12):c.4222C>A (p.Pro1408Thr) rs867023185
NM_005120.3(MED12):c.4225A>G (p.Ser1409Gly) rs2092319198
NM_005120.3(MED12):c.4255T>C (p.Ser1419Pro) rs2147814288
NM_005120.3(MED12):c.4354G>C (p.Glu1452Gln) rs2147814607
NM_005120.3(MED12):c.4355A>C (p.Glu1452Ala) rs2092319925
NM_005120.3(MED12):c.4372G>C (p.Gly1458Arg) rs863223698
NM_005120.3(MED12):c.4415+3A>G rs1602301683
NM_005120.3(MED12):c.4416-77CTCTT[13] rs56658066
NM_005120.3(MED12):c.4416-77CTCTT[16] rs56658066
NM_005120.3(MED12):c.4442T>C (p.Phe1481Ser) rs2147816845
NM_005120.3(MED12):c.4489G>A (p.Glu1497Lys) rs868164882
NM_005120.3(MED12):c.4523A>G (p.His1508Arg)
NM_005120.3(MED12):c.4552C>G (p.Gln1518Glu)
NM_005120.3(MED12):c.4568G>A (p.Cys1523Tyr)
NM_005120.3(MED12):c.458T>C (p.Val153Ala)
NM_005120.3(MED12):c.4620G>A (p.Val1540=) rs756385578
NM_005120.3(MED12):c.4684C>T (p.Leu1562=)
NM_005120.3(MED12):c.4728-11T>G rs2147822249
NM_005120.3(MED12):c.4772A>G (p.Asn1591Ser) rs2147822394
NM_005120.3(MED12):c.4828A>G (p.Lys1610Glu)
NM_005120.3(MED12):c.4831C>G (p.Arg1611Gly) rs727503868
NM_005120.3(MED12):c.4904T>C (p.Val1635Ala)
NM_005120.3(MED12):c.4910A>C (p.Gln1637Pro)
NM_005120.3(MED12):c.4997C>T (p.Ala1666Val) rs2092329067
NM_005120.3(MED12):c.5005G>A (p.Asp1669Asn) rs779481901
NM_005120.3(MED12):c.5042C>A (p.Thr1681Asn) rs2092332349
NM_005120.3(MED12):c.5068C>A (p.Leu1690Ile)
NM_005120.3(MED12):c.5197C>T (p.Arg1733Trp)
NM_005120.3(MED12):c.5237C>T (p.Pro1746Leu) rs2147826599
NM_005120.3(MED12):c.5252C>T (p.Pro1751Leu) rs748064846
NM_005120.3(MED12):c.5263A>T (p.Thr1755Ser)
NM_005120.3(MED12):c.5272G>C (p.Glu1758Gln)
NM_005120.3(MED12):c.5303A>C (p.Lys1768Thr) rs1295791827
NM_005120.3(MED12):c.5405A>G (p.Tyr1802Cys)
NM_005120.3(MED12):c.5422C>T (p.Arg1808Trp) rs372271659
NM_005120.3(MED12):c.5512T>C (p.Ser1838Pro) rs2147828251
NM_005120.3(MED12):c.5563G>A (p.Val1855Met) rs1085307774
NM_005120.3(MED12):c.5589A>C (p.Leu1863Phe)
NM_005120.3(MED12):c.5621A>T (p.Tyr1874Phe)
NM_005120.3(MED12):c.5641A>G (p.Thr1881Ala) rs2147829238
NM_005120.3(MED12):c.5642C>G (p.Thr1881Ser)
NM_005120.3(MED12):c.5674T>G (p.Ser1892Ala) rs2147829347
NM_005120.3(MED12):c.5734C>T (p.Arg1912Cys) rs2147829625
NM_005120.3(MED12):c.5882G>T (p.Gly1961Val)
NM_005120.3(MED12):c.5917T>C (p.Tyr1973His)
NM_005120.3(MED12):c.5922G>T (p.Gln1974His) rs879255528
NM_005120.3(MED12):c.5954T>C (p.Val1985Ala) rs2092336606
NM_005120.3(MED12):c.5957A>C (p.Asp1986Ala) rs1064796982
NM_005120.3(MED12):c.5965C>T (p.Arg1989Cys) rs1009330609
NM_005120.3(MED12):c.5983C>T (p.Pro1995Ser) rs2092336678
NM_005120.3(MED12):c.6037A>G (p.Thr2013Ala) rs777453338
NM_005120.3(MED12):c.607G>A (p.Glu203Lys) rs1219301632
NM_005120.3(MED12):c.6109G>A (p.Gly2037Ser)
NM_005120.3(MED12):c.610T>A (p.Tyr204Asn)
NM_005120.3(MED12):c.6206_6207insGCATCAGCAGCAACAGCA (p.2065_2069Q[5]HQQQQQ[1]) rs2147839617
NM_005120.3(MED12):c.6238C>T (p.Arg2080Trp)
NM_005120.3(MED12):c.6288GCA[9] (p.Gln2114_Gln2115dup) rs766775649
NM_005120.3(MED12):c.628G>C (p.Ala210Pro) rs1379201163
NM_005120.3(MED12):c.6336_6362del (p.Gln2115_Gln2123del) rs1353930135
NM_005120.3(MED12):c.6365A>G (p.Gln2122Arg) rs2147842352
NM_005120.3(MED12):c.641G>A (p.Gly214Asp)
NM_005120.3(MED12):c.6422G>A (p.Gly2141Glu) rs1556340261
NM_005120.3(MED12):c.659G>A (p.Gly220Glu) rs2147777713
NM_005120.3(MED12):c.692G>A (p.Arg231Gln)
NM_005120.3(MED12):c.70G>T (p.Val24Phe) rs2092281566
NM_005120.3(MED12):c.734A>G (p.Gln245Arg) rs1569480972
NM_005120.3(MED12):c.85C>A (p.Pro29Thr) rs2147767136
NM_005120.3(MED12):c.892G>T (p.Ala298Ser) rs2147779555
NM_005120.3(MED12):c.938G>A (p.Ser313Asn) rs1317622485
NM_005120.3(MED12):c.956T>C (p.Val319Ala) rs2147779816
NM_005120.3(MED12):c.994C>T (p.Pro332Ser)

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