ClinVar Miner

List of variants in gene MED12 reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 293
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HGVS dbSNP gnomAD frequency
NM_005120.3(MED12):c.3930A>C (p.Pro1310=) rs5030619 0.21992
NM_005120.3(MED12):c.2259G>A (p.Arg753=) rs61752446 0.01916
NM_005120.3(MED12):c.5535C>T (p.Asn1845=) rs34784349 0.01002
NM_005120.3(MED12):c.5650G>A (p.Gly1884Ser) rs147354926 0.00685
NM_005120.3(MED12):c.2886C>T (p.Ser962=) rs34761462 0.00604
NM_005120.3(MED12):c.1248+15T>C rs187377817 0.00307
NM_005120.3(MED12):c.384A>G (p.Gln128=) rs201566660 0.00225
NM_005120.3(MED12):c.3699G>A (p.Ala1233=) rs184162709 0.00133
NM_005120.3(MED12):c.3204C>T (p.Pro1068=) rs201807437 0.00104
NM_005120.3(MED12):c.438A>G (p.Leu146=) rs35068602 0.00100
NM_005120.3(MED12):c.5711C>T (p.Ala1904Val) rs200663107 0.00092
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.934G>C (p.Val312Leu) rs377403264 0.00020
NM_005120.3(MED12):c.4665G>A (p.Thr1555=) rs375001801 0.00019
NM_005120.3(MED12):c.708C>T (p.Thr236=) rs34668206 0.00019
NM_005120.3(MED12):c.4111C>T (p.Pro1371Ser) rs587778437 0.00018
NM_005120.3(MED12):c.4179A>C (p.Ser1393=) rs376058351 0.00015
NM_005120.3(MED12):c.5805C>T (p.Ser1935=) rs201608537 0.00013
NM_005120.3(MED12):c.3918C>T (p.Asp1306=) rs372389957 0.00012
NM_005120.3(MED12):c.4488C>T (p.Arg1496=) rs531754497 0.00012
NM_005120.3(MED12):c.321A>C (p.Ala107=) rs748627661 0.00010
NM_005120.3(MED12):c.3357C>T (p.Val1119=) rs773679943 0.00010
NM_005120.3(MED12):c.3843C>T (p.Tyr1281=) rs369268877 0.00010
NM_005120.3(MED12):c.3942T>C (p.Ser1314=) rs3810670 0.00010
NM_005120.3(MED12):c.5617A>G (p.Thr1873Ala) rs372326268 0.00010
NM_005120.3(MED12):c.6201A>G (p.Gln2067=) rs375793297 0.00010
NM_005120.3(MED12):c.1849A>G (p.Thr617Ala) rs765417606 0.00009
NM_005120.3(MED12):c.4115A>G (p.Asn1372Ser) rs202009066 0.00009
NM_005120.3(MED12):c.5103T>C (p.Ser1701=) rs762801267 0.00009
NM_005120.3(MED12):c.5267T>C (p.Leu1756Pro) rs201843482 0.00009
NM_005120.3(MED12):c.1028C>T (p.Ser343Leu) rs764107388 0.00008
NM_005120.3(MED12):c.27C>T (p.Tyr9=) rs376743527 0.00008
NM_005120.3(MED12):c.4425A>G (p.Leu1475=) rs370211858 0.00008
NM_005120.3(MED12):c.4851G>A (p.Ala1617=) rs377210068 0.00008
NM_005120.3(MED12):c.1167G>A (p.Lys389=) rs374324656 0.00007
NM_005120.3(MED12):c.4359G>A (p.Lys1453=) rs766087487 0.00007
NM_005120.3(MED12):c.2220C>T (p.Ile740=) rs370195616 0.00006
NM_005120.3(MED12):c.3222C>T (p.Ile1074=) rs374156594 0.00006
NM_005120.3(MED12):c.4620G>T (p.Val1540=) rs756385578 0.00006
NM_005120.3(MED12):c.5205C>T (p.Arg1735=) rs747836622 0.00006
NM_005120.3(MED12):c.568A>G (p.Ile190Val) rs374780236 0.00006
NM_005120.3(MED12):c.6097A>G (p.Met2033Val) rs372606012 0.00006
NM_005120.3(MED12):c.4253+4G>A rs750162341 0.00005
NM_005120.3(MED12):c.5490A>C (p.Thr1830=) rs762466624 0.00005
NM_005120.3(MED12):c.6003G>A (p.Gln2001=) rs1226474526 0.00005
NM_005120.3(MED12):c.6072A>T (p.Thr2024=) rs200692655 0.00005
NM_005120.3(MED12):c.6279A>G (p.Gln2093=) rs1050062166 0.00005
NM_005120.3(MED12):c.906A>G (p.Thr302=) rs1458066906 0.00005
NM_005120.3(MED12):c.2571G>A (p.Thr857=) rs368090262 0.00004
NM_005120.3(MED12):c.5190G>C (p.Leu1730=) rs753355369 0.00004
NM_005120.3(MED12):c.5442G>C (p.Val1814=) rs773540568 0.00004
NM_005120.3(MED12):c.5775A>G (p.Ser1925=) rs376753995 0.00004
NM_005120.3(MED12):c.5966G>A (p.Arg1989His) rs1569482448 0.00004
NM_005120.3(MED12):c.5981G>A (p.Arg1994Gln) rs750926172 0.00004
NM_005120.3(MED12):c.6079A>G (p.Ile2027Val) rs750648216 0.00004
NM_005120.3(MED12):c.6285A>G (p.Gln2095=) rs794727673 0.00004
NM_005120.3(MED12):c.183C>T (p.Asn61=) rs770411750 0.00003
NM_005120.3(MED12):c.2895C>T (p.Ser965=) rs1060504496 0.00003
NM_005120.3(MED12):c.3333C>T (p.Asn1111=) rs781289776 0.00003
NM_005120.3(MED12):c.3381G>T (p.Ser1127=) rs369946933 0.00003
NM_005120.3(MED12):c.3985C>G (p.Arg1329Gly) rs766827969 0.00003
NM_005120.3(MED12):c.4711G>A (p.Asp1571Asn) rs962560401 0.00003
NM_005120.3(MED12):c.5316G>A (p.Pro1772=) rs398124199 0.00003
NM_005120.3(MED12):c.5778T>C (p.Ser1926=) rs758530859 0.00003
NM_005120.3(MED12):c.6168A>G (p.Gln2056=) rs745565325 0.00003
NM_005120.3(MED12):c.6268-4A>G rs780580344 0.00003
NM_005120.3(MED12):c.6291G>A (p.Gln2097=) rs756285149 0.00003
NM_005120.3(MED12):c.6326A>C (p.Gln2109Pro) rs755793630 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.1807C>T (p.Leu603=) rs797045696 0.00002
NM_005120.3(MED12):c.1956C>T (p.Ser652=) rs199873151 0.00002
NM_005120.3(MED12):c.1994C>G (p.Ser665Cys) rs764981858 0.00002
NM_005120.3(MED12):c.2118C>T (p.Val706=) rs1346228842 0.00002
NM_005120.3(MED12):c.2172T>C (p.Val724=) rs187478018 0.00002
NM_005120.3(MED12):c.2202C>T (p.Tyr734=) rs1366328614 0.00002
NM_005120.3(MED12):c.2308G>A (p.Ala770Thr) rs199860580 0.00002
NM_005120.3(MED12):c.2982C>T (p.Ser994=) rs886039139 0.00002
NM_005120.3(MED12):c.3693G>T (p.Gly1231=) rs965896553 0.00002
NM_005120.3(MED12):c.3796C>T (p.Arg1266Cys) rs1060502168 0.00002
NM_005120.3(MED12):c.4161C>T (p.Ile1387=) rs776947543 0.00002
NM_005120.3(MED12):c.4238C>A (p.Thr1413Asn) rs759532414 0.00002
NM_005120.3(MED12):c.4299T>C (p.Ala1433=) rs763359998 0.00002
NM_005120.3(MED12):c.4761C>T (p.Ser1587=) rs369563649 0.00002
NM_005120.3(MED12):c.5253G>A (p.Pro1751=) rs770067057 0.00002
NM_005120.3(MED12):c.5476C>T (p.Pro1826Ser) rs867576281 0.00002
NM_005120.3(MED12):c.5510G>C (p.Gly1837Ala) rs200328506 0.00002
NM_005120.3(MED12):c.5576G>A (p.Arg1859His) rs763700798 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.5808C>T (p.Tyr1936=) rs757398839 0.00002
NM_005120.3(MED12):c.5991C>T (p.Gly1997=) rs780565385 0.00002
NM_005120.3(MED12):c.6121G>A (p.Gly2041Ser) rs901541873 0.00002
NM_005120.3(MED12):c.931G>A (p.Gly311Ser) rs1477622307 0.00002
NM_005120.3(MED12):c.1039A>G (p.Ser347Gly) rs752300879 0.00001
NM_005120.3(MED12):c.1098A>G (p.Leu366=) rs1325162892 0.00001
NM_005120.3(MED12):c.1140C>T (p.His380=) rs753714929 0.00001
NM_005120.3(MED12):c.1253G>A (p.Arg418His) rs1431487428 0.00001
NM_005120.3(MED12):c.147T>A (p.Pro49=) rs774875020 0.00001
NM_005120.3(MED12):c.1895G>A (p.Arg632Gln) rs199582086 0.00001
NM_005120.3(MED12):c.1996A>G (p.Met666Val) rs1401003961 0.00001
NM_005120.3(MED12):c.201C>G (p.Ala67=) rs374555675 0.00001
NM_005120.3(MED12):c.2128G>A (p.Val710Met) rs797045697 0.00001
NM_005120.3(MED12):c.2312T>C (p.Ile771Thr) rs778325168 0.00001
NM_005120.3(MED12):c.2341G>A (p.Val781Ile) rs2092300526 0.00001
NM_005120.3(MED12):c.2450G>A (p.Arg817His) rs749801457 0.00001
NM_005120.3(MED12):c.2631C>T (p.Phe877=) rs751190759 0.00001
NM_005120.3(MED12):c.2698C>T (p.Leu900=) rs1470081405 0.00001
NM_005120.3(MED12):c.2784T>G (p.Ala928=) rs1431106485 0.00001
NM_005120.3(MED12):c.3063C>T (p.Phe1021=) rs797045698 0.00001
NM_005120.3(MED12):c.3948G>A (p.Gln1316=) rs1359267668 0.00001
NM_005120.3(MED12):c.4021C>T (p.Arg1341Trp) rs777250096 0.00001
NM_005120.3(MED12):c.4041T>C (p.Ile1347=) rs769884032 0.00001
NM_005120.3(MED12):c.4159A>G (p.Ile1387Val) rs1366165823 0.00001
NM_005120.3(MED12):c.4635C>G (p.Asp1545Glu) rs151316557 0.00001
NM_005120.3(MED12):c.4929G>A (p.Lys1643=) rs964113005 0.00001
NM_005120.3(MED12):c.492T>C (p.Cys164=) rs886039163 0.00001
NM_005120.3(MED12):c.4974C>T (p.Ile1658=) rs376179450 0.00001
NM_005120.3(MED12):c.5058G>A (p.Ser1686=) rs1346436513 0.00001
NM_005120.3(MED12):c.5198G>A (p.Arg1733Gln) rs754537871 0.00001
NM_005120.3(MED12):c.5206G>A (p.Ala1736Thr) rs1042718707 0.00001
NM_005120.3(MED12):c.5258C>T (p.Ala1753Val) rs1246253918 0.00001
NM_005120.3(MED12):c.5679T>C (p.Tyr1893=) rs747217643 0.00001
NM_005120.3(MED12):c.5916T>C (p.Pro1972=) rs2092336480 0.00001
NM_005120.3(MED12):c.6017A>C (p.Tyr2006Ser) rs769232520 0.00001
NM_005120.3(MED12):c.6124G>A (p.Val2042Ile) rs755577187 0.00001
NM_005120.3(MED12):c.6183A>G (p.Gln2061=) rs749041154 0.00001
NM_005120.3(MED12):c.6186G>C (p.Gln2062His) rs1362044936 0.00001
NM_005120.3(MED12):c.6273G>A (p.Gln2091=) rs1556340048 0.00001
NM_005120.3(MED12):c.6312G>A (p.Gln2104=) rs1416010935 0.00001
NM_005120.3(MED12):c.6315A>G (p.Gln2105=) rs1343388487 0.00001
NM_005120.3(MED12):c.6399C>G (p.Ser2133=) rs1321273556 0.00001
NM_005120.3(MED12):c.701A>T (p.Asp234Val) rs927746681 0.00001
NM_005120.3(MED12):c.872C>A (p.Ala291Glu) rs754533515 0.00001
NM_005120.2(MED12):c.6273_6278dup rs748394417
NM_005120.2(MED12):c.6276_6278dup (p.Gln2115_His2116insGln) rs748394417
NM_005120.3(MED12):c.1053G>T (p.Met351Ile) rs2147780368
NM_005120.3(MED12):c.1157G>A (p.Ser386Asn)
NM_005120.3(MED12):c.1203G>A (p.Pro401=) rs368546216
NM_005120.3(MED12):c.1290G>A (p.Glu430=) rs1556334791
NM_005120.3(MED12):c.137A>C (p.Asn46Thr)
NM_005120.3(MED12):c.144G>T (p.Gln48His)
NM_005120.3(MED12):c.171C>T (p.Gly57=)
NM_005120.3(MED12):c.184G>A (p.Val62Ile) rs1039763693
NM_005120.3(MED12):c.1893C>G (p.Pro631=)
NM_005120.3(MED12):c.1970T>C (p.Leu657Pro) rs2147790051
NM_005120.3(MED12):c.1984C>T (p.Leu662Phe)
NM_005120.3(MED12):c.2170G>T (p.Val724Phe)
NM_005120.3(MED12):c.2179G>A (p.Asp727Asn)
NM_005120.3(MED12):c.2271G>A (p.Leu757=) rs756091104
NM_005120.3(MED12):c.2300C>T (p.Ala767Val)
NM_005120.3(MED12):c.2322C>T (p.Ile774=)
NM_005120.3(MED12):c.2363C>G (p.Ala788Gly)
NM_005120.3(MED12):c.2384C>T (p.Pro795Leu) rs2092301217
NM_005120.3(MED12):c.244C>T (p.Arg82Cys)
NM_005120.3(MED12):c.2455C>A (p.Arg819=)
NM_005120.3(MED12):c.2570C>T (p.Thr857Met)
NM_005120.3(MED12):c.2625C>T (p.Phe875=)
NM_005120.3(MED12):c.2643A>C (p.Glu881Asp)
NM_005120.3(MED12):c.2863G>C (p.Val955Leu)
NM_005120.3(MED12):c.2867A>G (p.Lys956Arg) rs1569481527
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005120.3(MED12):c.2905C>T (p.Arg969Cys)
NM_005120.3(MED12):c.2990G>A (p.Cys997Tyr) rs1556336381
NM_005120.3(MED12):c.3009C>A (p.Thr1003=) rs375493995
NM_005120.3(MED12):c.3022G>A (p.Val1008Met)
NM_005120.3(MED12):c.3067A>G (p.Ile1023Val) rs879255526
NM_005120.3(MED12):c.3223G>T (p.Ala1075Ser)
NM_005120.3(MED12):c.3303C>G (p.Cys1101Trp) rs1556336534
NM_005120.3(MED12):c.330G>C (p.Gln110His)
NM_005120.3(MED12):c.3385G>A (p.Ala1129Thr)
NM_005120.3(MED12):c.3413G>A (p.Arg1138Gln) rs869312960
NM_005120.3(MED12):c.3419G>C (p.Cys1140Ser)
NM_005120.3(MED12):c.3427C>T (p.Leu1143=)
NM_005120.3(MED12):c.3443G>T (p.Arg1148Leu) rs387907360
NM_005120.3(MED12):c.3467T>G (p.Leu1156Arg)
NM_005120.3(MED12):c.3483T>C (p.Ser1161=)
NM_005120.3(MED12):c.357C>G (p.Asp119Glu)
NM_005120.3(MED12):c.3640C>T (p.Arg1214Cys) rs2092311077
NM_005120.3(MED12):c.3645C>T (p.Ile1215=)
NM_005120.3(MED12):c.3661T>G (p.Phe1221Val)
NM_005120.3(MED12):c.3665C>G (p.Ala1222Gly)
NM_005120.3(MED12):c.3691+5G>A rs2147806182
NM_005120.3(MED12):c.3762AGG[1] (p.Gly1257del) rs1602300077
NM_005120.3(MED12):c.3827A>G (p.Asp1276Gly)
NM_005120.3(MED12):c.3873G>A (p.Trp1291Ter)
NM_005120.3(MED12):c.3884G>A (p.Arg1295His) rs1556337063
NM_005120.3(MED12):c.3927C>A (p.Asp1309Glu)
NM_005120.3(MED12):c.3979C>A (p.Pro1327Thr) rs1569481764
NM_005120.3(MED12):c.4022G>A (p.Arg1341Gln)
NM_005120.3(MED12):c.4048-3C>T
NM_005120.3(MED12):c.4110C>G (p.Thr1370=)
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr) rs863223696
NM_005120.3(MED12):c.4296T>A (p.Ile1432=)
NM_005120.3(MED12):c.4297G>A (p.Ala1433Thr)
NM_005120.3(MED12):c.4400G>T (p.Arg1467Leu)
NM_005120.3(MED12):c.4500T>C (p.Leu1500=)
NM_005120.3(MED12):c.4505C>G (p.Ser1502Cys) rs1369442321
NM_005120.3(MED12):c.4530T>C (p.Ile1510=)
NM_005120.3(MED12):c.456T>C (p.Pro152=)
NM_005120.3(MED12):c.4606C>T (p.Arg1536Trp) rs2092323072
NM_005120.3(MED12):c.4638G>A (p.Thr1546=) rs980389482
NM_005120.3(MED12):c.4643A>G (p.Gln1548Arg)
NM_005120.3(MED12):c.4650C>T (p.Ser1550=) rs886039075
NM_005120.3(MED12):c.4668G>A (p.Glu1556=)
NM_005120.3(MED12):c.4674C>T (p.Ala1558=)
NM_005120.3(MED12):c.46C>A (p.Arg16=)
NM_005120.3(MED12):c.4725C>A (p.Asn1575Lys) rs1556338296
NM_005120.3(MED12):c.4747T>C (p.Leu1583=)
NM_005120.3(MED12):c.475C>T (p.Leu159Phe)
NM_005120.3(MED12):c.4764G>A (p.Val1588=)
NM_005120.3(MED12):c.4832G>A (p.Arg1611His) rs1569482153
NM_005120.3(MED12):c.4870T>G (p.Leu1624Val) rs766406937
NM_005120.3(MED12):c.4878G>A (p.Glu1626=)
NM_005120.3(MED12):c.4888G>A (p.Asp1630Asn)
NM_005120.3(MED12):c.4997C>T (p.Ala1666Val) rs2092329067
NM_005120.3(MED12):c.5092G>A (p.Ala1698Thr) rs1556338747
NM_005120.3(MED12):c.5163G>A (p.Gln1721=)
NM_005120.3(MED12):c.5164C>A (p.Arg1722=)
NM_005120.3(MED12):c.5204G>A (p.Arg1735His)
NM_005120.3(MED12):c.522G>A (p.Lys174=)
NM_005120.3(MED12):c.5252C>T (p.Pro1751Leu) rs748064846
NM_005120.3(MED12):c.5260C>T (p.Pro1754Ser)
NM_005120.3(MED12):c.5303A>G (p.Lys1768Arg) rs1295791827
NM_005120.3(MED12):c.5332A>G (p.Ser1778Gly)
NM_005120.3(MED12):c.5359A>T (p.Thr1787Ser)
NM_005120.3(MED12):c.5366G>T (p.Gly1789Val)
NM_005120.3(MED12):c.536A>G (p.His179Arg) rs2092285751
NM_005120.3(MED12):c.5376C>T (p.Arg1792=)
NM_005120.3(MED12):c.5401-3C>A rs1180673067
NM_005120.3(MED12):c.5422C>T (p.Arg1808Trp) rs372271659
NM_005120.3(MED12):c.5428G>A (p.Gly1810Ser)
NM_005120.3(MED12):c.5432C>T (p.Pro1811Leu)
NM_005120.3(MED12):c.5490A>G (p.Thr1830=)
NM_005120.3(MED12):c.5614C>T (p.Pro1872Ser)
NM_005120.3(MED12):c.566T>C (p.Ile189Thr)
NM_005120.3(MED12):c.5672C>T (p.Ser1891Phe)
NM_005120.3(MED12):c.5716C>G (p.Pro1906Ala)
NM_005120.3(MED12):c.572C>T (p.Thr191Ile)
NM_005120.3(MED12):c.5745C>G (p.Leu1915=)
NM_005120.3(MED12):c.5779G>A (p.Val1927Ile) rs1556339193
NM_005120.3(MED12):c.5825A>G (p.Gln1942Arg)
NM_005120.3(MED12):c.5873G>C (p.Gly1958Ala)
NM_005120.3(MED12):c.5920C>T (p.Gln1974Ter) rs1569482431
NM_005120.3(MED12):c.5922G>T (p.Gln1974His) rs879255528
NM_005120.3(MED12):c.5964C>T (p.Thr1988=)
NM_005120.3(MED12):c.5976A>G (p.Gln1992=)
NM_005120.3(MED12):c.5989G>T (p.Gly1997Cys) rs1556339260
NM_005120.3(MED12):c.6028C>A (p.Leu2010Met)
NM_005120.3(MED12):c.605C>G (p.Ala202Gly)
NM_005120.3(MED12):c.606T>C (p.Ala202=)
NM_005120.3(MED12):c.6111C>T (p.Gly2037=)
NM_005120.3(MED12):c.6123C>T (p.Gly2041=)
NM_005120.3(MED12):c.6165GCAACAGCA[1] (p.Gln2074_Gln2076del) rs762261992
NM_005120.3(MED12):c.6177A>G (p.Gln2059=) rs775267316
NM_005120.3(MED12):c.6177ACAGCA[3] (p.Gln2075_Gln2076dup) rs753370104
NM_005120.3(MED12):c.6177_6191del (p.Gln2072_Gln2076del) rs767827315
NM_005120.3(MED12):c.6189G>A (p.Gln2063=)
NM_005120.3(MED12):c.6204G>A (p.Gln2068=) rs1283568825
NM_005120.3(MED12):c.6208CAG[6] (p.Gln2076del) rs757160341
NM_005120.3(MED12):c.6208CAG[8] (p.Gln2076dup) rs757160341
NM_005120.3(MED12):c.6208CAG[9] (p.Gln2075_Gln2076dup) rs757160341
NM_005120.3(MED12):c.6241CAG[5] (p.Gln2086del) rs786200971
NM_005120.3(MED12):c.6241CAG[7] (p.Gln2086dup) rs786200971
NM_005120.3(MED12):c.6250C>A (p.Gln2084Lys)
NM_005120.3(MED12):c.6265C>T (p.Arg2089Trp)
NM_005120.3(MED12):c.6279ACAGCA[3] (p.Gln2114_Gln2115dup) rs761195801
NM_005120.3(MED12):c.6288GCA[10] (p.Gln2113_Gln2115dup) rs766775649
NM_005120.3(MED12):c.6288GCA[5] (p.Gln2114_Gln2115del) rs766775649
NM_005120.3(MED12):c.6288GCA[6] (p.Gln2115del) rs766775649
NM_005120.3(MED12):c.6288GCA[8] (p.Gln2115dup) rs766775649
NM_005120.3(MED12):c.6288GCA[9] (p.Gln2114_Gln2115dup) rs766775649
NM_005120.3(MED12):c.6309A>G (p.Gln2103=)
NM_005120.3(MED12):c.6309ACAGCA[1] (p.Gln2114_Gln2115del) rs764789036
NM_005120.3(MED12):c.6309ACAGCA[3] (p.Gln2114_Gln2115dup) rs764789036
NM_005120.3(MED12):c.631G>A (p.Gly211Arg)
NM_005120.3(MED12):c.6321_6335del (p.Gln2111_Gln2115del) rs727503869
NM_005120.3(MED12):c.6330ACAGCAACA[3] (p.Gln2115_His2116insGlnGlnGln)
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup) rs398124200
NM_005120.3(MED12):c.6352CAGCAACAG[3] (p.Gln2121_Gln2123dup) rs1433422316
NM_005120.3(MED12):c.6358C>T (p.Gln2120Ter) rs1556340124
NM_005120.3(MED12):c.6443A>G (p.Gln2148Arg) rs1569482852
NM_005120.3(MED12):c.6521T>C (p.Phe2174Ser)
NM_005120.3(MED12):c.656T>C (p.Ile219Thr)
NM_005120.3(MED12):c.679G>C (p.Glu227Gln)
NM_005120.3(MED12):c.692G>A (p.Arg231Gln)
NM_005120.3(MED12):c.810T>C (p.Asp270=)
NM_005120.3(MED12):c.887G>A (p.Arg296Gln) rs1556334519
NM_005120.3(MED12):c.938G>T (p.Ser313Ile)
NM_005120.3(MED12):c.964G>T (p.Ala322Ser)
NM_005120.3(MED12):c.980C>T (p.Thr327Met)

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