ClinVar Miner

List of variants in gene MED12 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 199
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HGVS dbSNP
NC_000023.11:g.71118268G>A
NC_000023.11:g.71118549A>G
NM_005120.2(MED12):c.6276_6278dup (p.Gln2115_His2116insGln) rs748394417
NM_005120.2(MED12):c.6300_6329del30 (p.Gln2106_Gln2115del) rs773480549
NM_005120.3(MED12):c.-28G>T rs373552360
NM_005120.3(MED12):c.-47A>T rs767078113
NM_005120.3(MED12):c.100-19C>T rs930154299
NM_005120.3(MED12):c.1028C>T (p.Ser343Leu) rs764107388
NM_005120.3(MED12):c.1039A>G (p.Ser347Gly) rs752300879
NM_005120.3(MED12):c.1066C>A (p.Arg356=) rs763867883
NM_005120.3(MED12):c.1101+18C>T rs200510424
NM_005120.3(MED12):c.1101+8_1101+9insCC rs1214824818
NM_005120.3(MED12):c.1102-136G>A
NM_005120.3(MED12):c.1113G>A (p.Leu371=)
NM_005120.3(MED12):c.111G>A (p.Thr37=) rs1057522480
NM_005120.3(MED12):c.1167G>A (p.Lys389=) rs374324656
NM_005120.3(MED12):c.1248+15T>C rs187377817
NM_005120.3(MED12):c.1264C>T (p.Arg422Trp) rs368913305
NM_005120.3(MED12):c.1273dup (p.Glu425fs) rs1556334780
NM_005120.3(MED12):c.129A>G (p.Gln43=) rs780634712
NM_005120.3(MED12):c.1332C>T (p.Cys444=) rs746205041
NM_005120.3(MED12):c.1344T>G (p.Thr448=) rs375202766
NM_005120.3(MED12):c.1348+18G>A rs776024292
NM_005120.3(MED12):c.1349-11T>C rs775255445
NM_005120.3(MED12):c.1386G>T (p.Val462=) rs186153976
NM_005120.3(MED12):c.1485+6C>T rs565198403
NM_005120.3(MED12):c.1485+96A>G
NM_005120.3(MED12):c.1547G>A (p.Arg516His) rs1556334969
NM_005120.3(MED12):c.1602G>A (p.Ala534=) rs1057523461
NM_005120.3(MED12):c.1618-8T>C rs1057522084
NM_005120.3(MED12):c.1659C>T (p.Ile553=) rs763388314
NM_005120.3(MED12):c.1660G>A (p.Ala554Thr) rs863223709
NM_005120.3(MED12):c.1682C>T (p.Pro561Leu) rs766485358
NM_005120.3(MED12):c.1695T>A (p.Ile565=) rs138984044
NM_005120.3(MED12):c.1732G>C (p.Ala578Pro) rs1131691350
NM_005120.3(MED12):c.1744+14C>T rs1263378137
NM_005120.3(MED12):c.1744+4C>T rs780750721
NM_005120.3(MED12):c.1744+51A>G
NM_005120.3(MED12):c.1745-19C>T rs1057524262
NM_005120.3(MED12):c.1754G>A (p.Arg585Gln) rs747113641
NM_005120.3(MED12):c.183C>T (p.Asn61=) rs770411750
NM_005120.3(MED12):c.1849A>G (p.Thr617Ala) rs765417606
NM_005120.3(MED12):c.1892C>T (p.Pro631Leu) rs1057524167
NM_005120.3(MED12):c.1929C>T (p.Asp643=) rs758195942
NM_005120.3(MED12):c.1974+93G>C
NM_005120.3(MED12):c.1975-5C>T rs200891932
NM_005120.3(MED12):c.204+12_204+13del rs200301833
NM_005120.3(MED12):c.204+13T>G rs901178143
NM_005120.3(MED12):c.205-38C>T rs12850852
NM_005120.3(MED12):c.2056-20C>T rs1057521831
NM_005120.3(MED12):c.2056-63G>T
NM_005120.3(MED12):c.2093G>A (p.Ser698Asn) rs863223710
NM_005120.3(MED12):c.2220C>T (p.Ile740=) rs370195616
NM_005120.3(MED12):c.2252A>G (p.Asn751Ser) rs863223700
NM_005120.3(MED12):c.2259G>A (p.Arg753=) rs61752446
NM_005120.3(MED12):c.2422+120T>G
NM_005120.3(MED12):c.2613G>A (p.Gln871=) rs372344160
NM_005120.3(MED12):c.272G>T (p.Arg91Leu) rs1057524478
NM_005120.3(MED12):c.2748C>A (p.Gly916=) rs768686458
NM_005120.3(MED12):c.2750G>A (p.Ser917Asn) rs1556336129
NM_005120.3(MED12):c.27C>T (p.Tyr9=) rs376743527
NM_005120.3(MED12):c.2850-7C>G rs1556336208
NM_005120.3(MED12):c.2886C>T (p.Ser962=) rs34761462
NM_005120.3(MED12):c.2981+13G>A rs73214870
NM_005120.3(MED12):c.3204C>T (p.Pro1068=) rs201807437
NM_005120.3(MED12):c.3210G>T (p.Arg1070Ser) rs863223704
NM_005120.3(MED12):c.3231G>T (p.Leu1077=) rs1556336518
NM_005120.3(MED12):c.3354+54G>A
NM_005120.3(MED12):c.3355-16C>G
NM_005120.3(MED12):c.3355-16_3355-13del rs1556336608
NM_005120.3(MED12):c.3355-8dup rs750373111
NM_005120.3(MED12):c.3412C>A (p.Arg1138=) rs1057523906
NM_005120.3(MED12):c.3456C>T (p.Ile1152=) rs1556336642
NM_005120.3(MED12):c.3516C>A (p.Thr1172=) rs1057521581
NM_005120.3(MED12):c.3516C>G (p.Thr1172=) rs1057521581
NM_005120.3(MED12):c.3577+17T>G rs1057523979
NM_005120.3(MED12):c.3577+9C>A rs1556336775
NM_005120.3(MED12):c.3667G>A (p.Val1223Ile) rs1057524217
NM_005120.3(MED12):c.3691+4C>T rs373381746
NM_005120.3(MED12):c.3699G>A (p.Ala1233=) rs184162709
NM_005120.3(MED12):c.3785G>A (p.Arg1262Lys) rs202120461
NM_005120.3(MED12):c.3797G>A (p.Arg1266His) rs587780391
NM_005120.3(MED12):c.3801C>T (p.Asn1267=) rs1057520418
NM_005120.3(MED12):c.381G>A (p.Thr127=) rs202125318
NM_005120.3(MED12):c.3843C>T (p.Tyr1281=) rs369268877
NM_005120.3(MED12):c.3844G>A (p.Val1282Met) rs398124197
NM_005120.3(MED12):c.384A>G (p.Gln128=) rs201566660
NM_005120.3(MED12):c.3883C>T (p.Arg1295Cys) rs863223706
NM_005120.3(MED12):c.3918C>T (p.Asp1306=)
NM_005120.3(MED12):c.3928_3930delinsTCC (p.Pro1310Ser) rs863223712
NM_005120.3(MED12):c.3942T>C (p.Ser1314=) rs3810670
NM_005120.3(MED12):c.3968T>C (p.Leu1323Pro) rs1556337085
NM_005120.3(MED12):c.397-12A>G rs192515277
NM_005120.3(MED12):c.397-12A>T rs192515277
NM_005120.3(MED12):c.4021C>T (p.Arg1341Trp) rs777250096
NM_005120.3(MED12):c.4047+223A>G
NM_005120.3(MED12):c.4048-12C>T rs1556337459
NM_005120.3(MED12):c.4111C>T (p.Pro1371Ser) rs587778437
NM_005120.3(MED12):c.4115A>G (p.Asn1372Ser) rs202009066
NM_005120.3(MED12):c.4120-12C>T rs1556337617
NM_005120.3(MED12):c.4146C>T (p.Ile1382=) rs923552252
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr) rs863223696
NM_005120.3(MED12):c.4159A>G (p.Ile1387Val) rs1366165823
NM_005120.3(MED12):c.4179A>C (p.Ser1393=) rs376058351
NM_005120.3(MED12):c.4265G>A (p.Arg1422His) rs1255849432
NM_005120.3(MED12):c.4299T>C (p.Ala1433=) rs763359998
NM_005120.3(MED12):c.4372G>C (p.Gly1458Arg) rs863223698
NM_005120.3(MED12):c.438A>G (p.Leu146=) rs35068602
NM_005120.3(MED12):c.4415+128A>G
NM_005120.3(MED12):c.4415+29T>C rs10521349
NM_005120.3(MED12):c.4416-43_4416-14del rs1556337864
NM_005120.3(MED12):c.4416-77CTCTT[11] rs56658066
NM_005120.3(MED12):c.4416-77CTCTT[6] rs56658066
NM_005120.3(MED12):c.4416-77CTCTT[7] rs56658066
NM_005120.3(MED12):c.4416-77CTCTT[8] rs56658066
NM_005120.3(MED12):c.4428G>A (p.Leu1476=)
NM_005120.3(MED12):c.4470A>G (p.Lys1490=) rs766138859
NM_005120.3(MED12):c.4488C>T (p.Arg1496=) rs531754497
NM_005120.3(MED12):c.4528-19T>C rs370859385
NM_005120.3(MED12):c.4665G>A (p.Thr1555=) rs375001801
NM_005120.3(MED12):c.473G>A (p.Trp158Ter) rs1556334114
NM_005120.3(MED12):c.4831C>T (p.Arg1611Cys) rs727503868
NM_005120.3(MED12):c.4851G>A (p.Ala1617=) rs377210068
NM_005120.3(MED12):c.4863+15C>T rs778076528
NM_005120.3(MED12):c.4864-6C>T rs1018026145
NM_005120.3(MED12):c.4880G>A (p.Arg1627His) rs759857680
NM_005120.3(MED12):c.4950G>A (p.Thr1650=) rs756839501
NM_005120.3(MED12):c.4974C>T (p.Ile1658=) rs376179450
NM_005120.3(MED12):c.5025+156_5025+157del
NM_005120.3(MED12):c.5026-12T>A rs1057520901
NM_005120.3(MED12):c.5026-17T>C rs1556338729
NM_005120.3(MED12):c.5026-189G>C
NM_005120.3(MED12):c.5026-249A>T
NM_005120.3(MED12):c.5088G>A (p.Pro1696=) rs202167558
NM_005120.3(MED12):c.5103T>C (p.Ser1701=) rs762801267
NM_005120.3(MED12):c.5125C>T (p.Arg1709Ter) rs886041581
NM_005120.3(MED12):c.5135_5138dup (p.Val1714fs) rs1556338764
NM_005120.3(MED12):c.5190G>C (p.Leu1730=) rs753355369
NM_005120.3(MED12):c.5205C>T (p.Arg1735=) rs747836622
NM_005120.3(MED12):c.5400+6C>T rs192656109
NM_005120.3(MED12):c.5400+7G>A rs201254124
NM_005120.3(MED12):c.5401-87T>C
NM_005120.3(MED12):c.5490A>C (p.Thr1830=) rs762466624
NM_005120.3(MED12):c.5510G>C (p.Gly1837Ala) rs200328506
NM_005120.3(MED12):c.553+12C>G rs1556334127
NM_005120.3(MED12):c.553+302C>G
NM_005120.3(MED12):c.5535C>T (p.Asn1845=) rs34784349
NM_005120.3(MED12):c.554-83A>G
NM_005120.3(MED12):c.5563G>A (p.Val1855Met) rs1085307774
NM_005120.3(MED12):c.5593A>G (p.Met1865Val) rs587778438
NM_005120.3(MED12):c.5650G>A (p.Gly1884Ser) rs147354926
NM_005120.3(MED12):c.5659G>A (p.Gly1887Ser) rs758621985
NM_005120.3(MED12):c.568A>G (p.Ile190Val) rs374780236
NM_005120.3(MED12):c.5709T>A (p.Pro1903=)
NM_005120.3(MED12):c.5711C>T (p.Ala1904Val) rs200663107
NM_005120.3(MED12):c.5712G>A (p.Ala1904=) rs189962028
NM_005120.3(MED12):c.5748+16G>T rs199760183
NM_005120.3(MED12):c.5775A>G (p.Ser1925=) rs376753995
NM_005120.3(MED12):c.5805C>T (p.Ser1935=) rs201608537
NM_005120.3(MED12):c.5920C>T (p.Gln1974Ter) rs1569482431
NM_005120.3(MED12):c.5957A>C (p.Asp1986Ala) rs1064796982
NM_005120.3(MED12):c.6044+16G>C rs367904425
NM_005120.3(MED12):c.6045-24C>T rs140083803
NM_005120.3(MED12):c.6072A>T (p.Thr2024=) rs200692655
NM_005120.3(MED12):c.6097A>G (p.Met2033Val) rs372606012
NM_005120.3(MED12):c.6121G>A (p.Gly2041Ser) rs901541873
NM_005120.3(MED12):c.6139A>G (p.Ile2047Val) rs748668603
NM_005120.3(MED12):c.6150_6152GCA[4] (p.Gln2075_Gln2076del) rs769857818
NM_005120.3(MED12):c.6177_6182ACAGCA[1] (p.Gln2075_Gln2076del)
NM_005120.3(MED12):c.6186_6188GCA[6] (p.Gln2076dup) rs754533796
NM_005120.3(MED12):c.6201A>G (p.Gln2067=) rs375793297
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.6235A>G (p.Ile2079Val) rs200820997
NM_005120.3(MED12):c.6241_6243CAG[5] (p.Gln2086del) rs786200971
NM_005120.3(MED12):c.6241_6243CAG[7] (p.Gln2086dup) rs786200971
NM_005120.3(MED12):c.6267+20T>C rs1032542640
NM_005120.3(MED12):c.6279A>G (p.Gln2093=) rs1050062166
NM_005120.3(MED12):c.6279_6284ACAGCA[3] (p.Gln2114_Gln2115dup) rs761195801
NM_005120.3(MED12):c.6288_6290GCA[8] (p.Gln2115dup) rs766775649
NM_005120.3(MED12):c.6288_6290GCA[9] (p.Gln2114_Gln2115dup) rs766775649
NM_005120.3(MED12):c.6309_6314ACAGCA[1] (p.Gln2114_Gln2115del) rs764789036
NM_005120.3(MED12):c.6318_6320GCA[5] (p.Gln2115dup) rs1168018409
NM_005120.3(MED12):c.6336_6362del (p.Gln2115_Gln2123del) rs1353930135
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup) rs398124200
NM_005120.3(MED12):c.6408+16C>T rs1057522248
NM_005120.3(MED12):c.6409-114T>C
NM_005120.3(MED12):c.6409-125T>C
NM_005120.3(MED12):c.6409-14C>A rs374791085
NM_005120.3(MED12):c.6422G>A (p.Gly2141Glu) rs1556340261
NM_005120.3(MED12):c.6476A>C (p.Gln2159Pro) rs1085307941
NM_005120.3(MED12):c.6491-58G>A
NM_005120.3(MED12):c.6526C>T (p.Arg2176Cys) rs777818556
NM_005120.3(MED12):c.735+15A>G rs202206536
NM_005120.3(MED12):c.736-14C>G rs373707149
NM_005120.3(MED12):c.736-4A>G rs371311763
NM_005120.3(MED12):c.845G>A (p.Arg282Gln) rs1278775881
NM_005120.3(MED12):c.934G>C (p.Val312Leu) rs377403264
NM_005120.3(MED12):c.93G>C (p.Gln31His) rs1057521988

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