ClinVar Miner

List of variants in gene MED12 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 433
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HGVS dbSNP gnomAD frequency
NM_005120.3(MED12):c.5401-87T>C rs12852829 0.55167
NM_005120.3(MED12):c.6409-125T>C rs7056408 0.53788
NM_005120.3(MED12):c.5026-189G>C rs4844284 0.53371
NM_005120.2(MED12):c.-206A>G rs11796153 0.52390
NM_005120.3(MED12):c.1974+93G>C rs59024650 0.38224
NM_005120.3(MED12):c.554-83A>G rs4844282 0.37502
NM_005120.3(MED12):c.4120-85C>T rs6525471 0.33736
NM_005120.3(MED12):c.6491-58G>A rs36072155 0.25638
NM_005120.3(MED12):c.5026-249A>T rs12839587 0.24594
NM_005120.3(MED12):c.5025+156_5025+157del rs34862123 0.23287
NM_005120.3(MED12):c.4415+29T>C rs10521349 0.23097
NM_005120.3(MED12):c.4415+128A>G rs12843026 0.22805
NM_005120.3(MED12):c.3354+54G>A rs5030618 0.22662
NM_005120.3(MED12):c.1744+51A>G rs12841977 0.22385
NM_005120.3(MED12):c.205-38C>T rs12850852 0.22082
NM_005120.3(MED12):c.2422+120T>G rs73214869 0.22003
NM_005120.3(MED12):c.2056-63G>T rs5030616 0.21236
NM_005120.3(MED12):c.6408+53C>T rs7051453 0.15337
NM_005120.3(MED12):c.5401-25C>T rs41298482 0.15124
NM_005120.3(MED12):c.3354+27G>C rs5030617 0.15058
NM_005120.3(MED12):c.6409-114T>C rs3895088 0.14604
NM_005120.3(MED12):c.1102-136G>A rs4844283 0.13635
NM_005120.3(MED12):c.2422+30C>T rs2075790 0.12776
NM_005120.3(MED12):c.4618-105C>A rs200721936 0.06659
NM_005120.2(MED12):c.-487G>A rs12840573 0.05151
NM_005120.3(MED12):c.4047+223A>G rs73539609 0.04554
NM_005120.3(MED12):c.1102-21T>C rs143664908 0.03128
NM_005120.3(MED12):c.204+58G>C rs144436978 0.02926
NM_005120.3(MED12):c.4864-54C>T rs12010687 0.02482
NM_005120.3(MED12):c.100-64A>G rs73634861 0.01914
NM_005120.3(MED12):c.554-21C>A rs150228870 0.01912
NM_005120.3(MED12):c.6045-24C>T rs140083803 0.01192
NC_000023.11:g.71118452A>G rs146126405 0.00760
NM_005120.3(MED12):c.553+218G>C rs144363608 0.00754
NM_005120.3(MED12):c.5025+72T>C rs73634863 0.00703
NM_005120.3(MED12):c.5650G>A (p.Gly1884Ser) rs147354926 0.00685
NM_005120.3(MED12):c.4528-21T>C rs73634862 0.00590
NM_005120.3(MED12):c.4119+175G>A rs60344770 0.00583
NC_000023.11:g.71142461G>A rs142511140 0.00382
NM_005120.3(MED12):c.6409-123C>G rs181905790 0.00363
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.397-39G>A rs147633472 0.00185
NM_005120.3(MED12):c.3867+42G>A rs186731406 0.00184
NM_005120.3(MED12):c.4617+51G>A rs180686238 0.00163
NM_005120.3(MED12):c.3699G>A (p.Ala1233=) rs184162709 0.00133
NM_005120.3(MED12):c.5025+32C>T rs199897402 0.00131
NM_005120.3(MED12):c.554-204C>T rs756332661 0.00130
NM_005120.3(MED12):c.5748+16G>T rs199760183 0.00122
NM_005120.3(MED12):c.5400+6C>T rs192656109 0.00121
NM_005120.3(MED12):c.5711C>T (p.Ala1904Val) rs200663107 0.00092
NM_005120.3(MED12):c.2423-51C>G rs199675815 0.00088
NM_005120.3(MED12):c.4617+25A>G rs760499470 0.00087
NM_005120.3(MED12):c.6045-50C>T rs372061858 0.00073
NM_005120.3(MED12):c.4527+35G>A rs188143570 0.00055
NM_005120.3(MED12):c.2850-27C>T rs144560611 0.00050
NM_005120.3(MED12):c.2613G>A (p.Gln871=) rs372344160 0.00047
NM_005120.3(MED12):c.3475+52C>T rs146560693 0.00047
NM_005120.3(MED12):c.2423-38T>C rs190258600 0.00046
NM_005120.3(MED12):c.3355-25G>C rs376673975 0.00044
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.4416-25C>A rs989329760 0.00039
NM_005120.3(MED12):c.204+25G>T rs377763948 0.00038
NM_005120.3(MED12):c.4254-28G>T rs369399007 0.00038
NM_005120.3(MED12):c.4416-15T>C rs770290521 0.00031
NM_005120.3(MED12):c.3867+22C>G rs149395528 0.00027
NM_005120.3(MED12):c.2055+19G>A rs373450304 0.00020
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.846+37G>A rs762621629 0.00019
NM_005120.3(MED12):c.4111C>T (p.Pro1371Ser) rs587778437 0.00018
NM_005120.3(MED12):c.3209+45A>T rs762212314 0.00017
NM_005120.3(MED12):c.6235A>G (p.Ile2079Val) rs200820997 0.00017
NM_005120.3(MED12):c.4179A>C (p.Ser1393=) rs376058351 0.00015
NM_005120.3(MED12):c.554-16T>A rs760845015 0.00015
NM_005120.3(MED12):c.5827-33G>A rs768113300 0.00014
NM_005120.3(MED12):c.2849+39C>T rs746081067 0.00013
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.3942T>C (p.Ser1314=) rs3810670 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.3692-11G>A rs773008879 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.966T>C (p.Ala322=) rs370616416 0.00009
NM_005120.3(MED12):c.1028C>T (p.Ser343Leu) rs764107388 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.3111G>A (p.Thr1037=) rs185658730 0.00007
NM_005120.3(MED12):c.4950G>A (p.Thr1650=) rs756839501 0.00007
NM_005120.3(MED12):c.5593A>G (p.Met1865Val) rs587778438 0.00007
NM_005120.3(MED12):c.5712G>A (p.Ala1904=) rs189962028 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.5400+44C>G rs757133536 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.1033C>T (p.Pro345Ser) rs761157306 0.00005
NM_005120.3(MED12):c.2311A>G (p.Ile771Val) rs749158402 0.00005
NM_005120.3(MED12):c.4864-6C>T rs1018026145 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.5490A>C (p.Thr1830=) rs762466624 0.00005
NM_005120.3(MED12):c.6139A>G (p.Ile2047Val) rs748668603 0.00005
NM_005120.3(MED12):c.2136C>T (p.Pro712=) rs377207665 0.00004
NM_005120.3(MED12):c.3721A>G (p.Thr1241Ala) rs1028631372 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.6285A>G (p.Gln2095=) rs794727673 0.00004
NM_005120.3(MED12):c.183C>T (p.Asn61=) rs770411750 0.00003
NM_005120.3(MED12):c.204+13T>G rs901178143 0.00003
NM_005120.3(MED12):c.2429A>C (p.Glu810Ala) rs752847512 0.00003
NM_005120.3(MED12):c.2849+14C>T rs398124196 0.00003
NM_005120.3(MED12):c.2895C>T (p.Ser965=) rs1060504496 0.00003
NM_005120.3(MED12):c.3012C>T (p.Ile1004=) rs775829185 0.00003
NM_005120.3(MED12):c.3782G>A (p.Arg1261Gln) rs1388327076 0.00003
NM_005120.3(MED12):c.4146C>T (p.Ile1382=) rs923552252 0.00003
NM_005120.3(MED12):c.4416-48T>C rs12849277 0.00003
NM_005120.3(MED12):c.4428G>A (p.Leu1476=) rs982066662 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.6490+52C>T rs369098007 0.00003
NM_005120.3(MED12):c.1031C>A (p.Thr344Asn) rs773615925 0.00002
NM_005120.3(MED12):c.1066C>A (p.Arg356=) rs763867883 0.00002
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.2118C>T (p.Val706=) rs1346228842 0.00002
NM_005120.3(MED12):c.2172T>C (p.Val724=) rs187478018 0.00002
NM_005120.3(MED12):c.3110C>T (p.Thr1037Met) rs377078179 0.00002
NM_005120.3(MED12):c.3209+35C>T rs190123882 0.00002
NM_005120.3(MED12):c.3210G>T (p.Arg1070Ser) rs863223704 0.00002
NM_005120.3(MED12):c.3355-16C>G rs201933970 0.00002
NM_005120.3(MED12):c.3785G>A (p.Arg1262Lys) rs202120461 0.00002
NM_005120.3(MED12):c.4238C>A (p.Thr1413Asn) rs759532414 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.1039A>G (p.Ser347Gly) rs752300879 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.1754G>A (p.Arg585Gln) rs747113641 0.00001
NM_005120.3(MED12):c.1895G>A (p.Arg632Gln) rs199582086 0.00001
NM_005120.3(MED12):c.1929C>T (p.Asp643=) rs758195942 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.2116G>A (p.Val706Ile) rs1300750523 0.00001
NM_005120.3(MED12):c.2128G>A (p.Val710Met) rs797045697 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.2422+16C>A rs774516868 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.3288T>G (p.Leu1096=) rs1167877198 0.00001
NM_005120.3(MED12):c.3609C>T (p.Cys1203=) rs751742488 0.00001
NM_005120.3(MED12):c.3691+38A>G rs369769263 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.4048-4A>G rs1222848911 0.00001
NM_005120.3(MED12):c.4120-4C>G rs1253682531 0.00001
NM_005120.3(MED12):c.4159A>G (p.Ile1387Val) rs1366165823 0.00001
NM_005120.3(MED12):c.4265G>A (p.Arg1422His) rs1255849432 0.00001
NM_005120.3(MED12):c.4416-8G>T rs770256156 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.5026-12T>A rs1057520901 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.5206G>A (p.Ala1736Thr) rs1042718707 0.00001
NM_005120.3(MED12):c.5258C>T (p.Ala1753Val) rs1246253918 0.00001
NM_005120.3(MED12):c.5418G>A (p.Pro1806=) rs770957462 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.5659G>A (p.Gly1887Ser) rs758621985 0.00001
NM_005120.3(MED12):c.5809G>A (p.Gly1937Ser) rs781638379 0.00001
NM_005120.3(MED12):c.5826+3A>G rs1302805754 0.00001
NM_005120.3(MED12):c.5952T>C (p.Leu1984=) rs2092336597 0.00001
NM_005120.3(MED12):c.6017A>C (p.Tyr2006Ser) rs769232520 0.00001
NM_005120.3(MED12):c.6045-5T>C rs1294743596 0.00001
NM_005120.3(MED12):c.621A>T (p.Pro207=) rs1467258035 0.00001
NM_005120.3(MED12):c.6315A>G (p.Gln2105=) rs1343388487 0.00001
NM_005120.3(MED12):c.6491-40G>A rs780779497 0.00001
NM_005120.3(MED12):c.845G>A (p.Arg282Gln) rs1278775881 0.00001
NM_005120.3(MED12):c.877C>T (p.Leu293=) rs764716429 0.00001
NM_005120.2(MED12):c.6273_6278dup rs748394417
NM_005120.2(MED12):c.6276_6278dup (p.Gln2115_His2116insGln) rs748394417
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.1113G>A (p.Leu371=) rs780470012
NM_005120.3(MED12):c.1203G>A (p.Pro401=) rs368546216
NM_005120.3(MED12):c.1247A>T (p.Gln416Leu)
NM_005120.3(MED12):c.1249-2A>G
NM_005120.3(MED12):c.1273dup (p.Glu425fs) rs1556334780
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.1861C>T (p.Arg621Ter) rs2147789622
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.2178C>T (p.Tyr726=)
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.2271G>A (p.Leu757=) rs756091104
NM_005120.3(MED12):c.2275G>A (p.Gly759Arg)
NM_005120.3(MED12):c.2320A>G (p.Ile774Val) rs2147793183
NM_005120.3(MED12):c.2384C>T (p.Pro795Leu) rs2092301217
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.2881C>T (p.Arg961Trp) rs80338758
NM_005120.3(MED12):c.2963A>G (p.Lys988Arg) rs2147799533
NM_005120.3(MED12):c.3020A>G (p.Asn1007Ser) rs80338759
NM_005120.3(MED12):c.3063C>A (p.Phe1021Leu) rs797045698
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.3306C>T (p.Ser1102=) rs2147802558
NM_005120.3(MED12):c.3354+6A>G rs770027742
NM_005120.3(MED12):c.3355-16_3355-13del rs1556336608
NM_005120.3(MED12):c.3355-8dup rs750373111
NM_005120.3(MED12):c.3405C>T (p.Leu1135=)
NM_005120.3(MED12):c.3410C>G (p.Ala1137Gly) rs2147803636
NM_005120.3(MED12):c.3443G>A (p.Arg1148His) rs387907360
NM_005120.3(MED12):c.3479G>A (p.Cys1160Tyr) rs2092310486
NM_005120.3(MED12):c.3480T>C (p.Cys1160=) rs1463883892
NM_005120.3(MED12):c.34C>T (p.Arg12Trp)
NM_005120.3(MED12):c.3505G>T (p.Ala1169Ser) rs1602299778
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.3646G>A (p.Val1216Met) rs2147805923
NM_005120.3(MED12):c.3647T>C (p.Val1216Ala) rs2147805932
NM_005120.3(MED12):c.3662T>C (p.Phe1221Ser)
NM_005120.3(MED12):c.3667G>A (p.Val1223Ile) rs1057524217
NM_005120.3(MED12):c.3691+2dup
NM_005120.3(MED12):c.3691+5G>A rs2147806182
NM_005120.3(MED12):c.3691+8G>A rs2092311203
NM_005120.3(MED12):c.3692-22A>C rs73539607
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.3884G>A (p.Arg1295His) rs1556337063
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.3956G>A (p.Arg1319His) rs1421325265
NM_005120.3(MED12):c.3968T>C (p.Leu1323Pro) rs1556337085
NM_005120.3(MED12):c.397-12A>G rs192515277
NM_005120.3(MED12):c.4009G>A (p.Glu1337Lys) rs1057520129
NM_005120.3(MED12):c.4011A>C (p.Glu1337Asp) rs2147808786
NM_005120.3(MED12):c.4022G>A (p.Arg1341Gln)
NM_005120.3(MED12):c.4048-11dup rs1213691583
NM_005120.3(MED12):c.4048-12C>T rs1556337459
NM_005120.3(MED12):c.4048-6T>C rs2147811804
NM_005120.3(MED12):c.4070G>A (p.Arg1357His) rs2147811858
NM_005120.3(MED12):c.4097T>C (p.Met1366Thr)
NM_005120.3(MED12):c.4119+183G>A rs147423866
NM_005120.3(MED12):c.4144A>G (p.Ile1382Val)
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr) rs863223696
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.4400G>A (p.Arg1467Gln) rs1488533087
NM_005120.3(MED12):c.4415+33G>A rs372112475
NM_005120.3(MED12):c.4415+3A>G rs1602301683
NM_005120.3(MED12):c.4416-66_4416-65insTTTCT
NM_005120.3(MED12):c.4416-73T>C
NM_005120.3(MED12):c.4416-74_4416-73insCCTCTTCTCT
NM_005120.3(MED12):c.4416-77CTCTT[13] rs56658066
NM_005120.3(MED12):c.4416-77CTCTT[14] rs56658066
NM_005120.3(MED12):c.4416-77CTCTT[15] rs56658066
NM_005120.3(MED12):c.4416-77CTCTT[16] rs56658066
NM_005120.3(MED12):c.4416-77CTCTT[7] rs56658066
NM_005120.3(MED12):c.4416-78_4416-74dup
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.4509C>T (p.Leu1503=) rs2147817069
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.4618-106del rs35646519
NM_005120.3(MED12):c.4618-106dup rs35646519
NM_005120.3(MED12):c.4620G>A (p.Val1540=) rs756385578
NM_005120.3(MED12):c.4669T>C (p.Trp1557Arg) rs794727576
NM_005120.3(MED12):c.4684C>T (p.Leu1562=)
NM_005120.3(MED12):c.4728-11T>G rs2147822249
NM_005120.3(MED12):c.473G>A (p.Trp158Ter) rs1556334114
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.4831C>T (p.Arg1611Cys) rs727503868
NM_005120.3(MED12):c.4832G>A (p.Arg1611His) rs1569482153
NM_005120.3(MED12):c.4896G>A (p.Leu1632=)
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.5125C>T (p.Arg1709Ter) rs886041581
NM_005120.3(MED12):c.5135_5138dup (p.Val1714fs) rs1556338764
NM_005120.3(MED12):c.5139A>C (p.Arg1713=)
NM_005120.3(MED12):c.5179C>T (p.His1727Tyr)
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.5303A>G (p.Lys1768Arg) 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.553+302C>G rs62609584
NM_005120.3(MED12):c.5563G>A (p.Val1855Met) rs1085307774
NM_005120.3(MED12):c.5571A>C (p.Pro1857=)
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.5667A>G (p.Glu1889=)
NM_005120.3(MED12):c.5674T>G (p.Ser1892Ala) rs2147829347
NM_005120.3(MED12):c.5709T>A (p.Pro1903=) rs1602304963
NM_005120.3(MED12):c.5734C>T (p.Arg1912Cys) rs2147829625
NM_005120.3(MED12):c.5769A>G (p.Gly1923=)
NM_005120.3(MED12):c.5808C>G (p.Tyr1936Ter)
NM_005120.3(MED12):c.5882G>T (p.Gly1961Val)
NM_005120.3(MED12):c.5898dup (p.Ser1967fs) rs879255527
NM_005120.3(MED12):c.5917T>C (p.Tyr1973His)
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.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.6177ACAGCA[1] (p.Gln2075_Gln2076del) rs753370104
NM_005120.3(MED12):c.6186GCA[3] (p.Gln2075_Gln2076del) rs754533796
NM_005120.3(MED12):c.6206_6207insGCATCAGCAGCAACAGCA (p.2065_2069Q[5]HQQQQQ[1]) rs2147839617
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.6210G>A (p.Gln2070=) rs1229904793
NM_005120.3(MED12):c.6226_6227insCAG (p.Gln2076delinsProGlu) rs2147839929
NM_005120.3(MED12):c.6238C>T (p.Arg2080Trp)
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.6241CAG[8] (p.Gln2085_Gln2086dup) rs786200971
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[9] (p.Gln2114_Gln2115dup) rs766775649
NM_005120.3(MED12):c.628G>C (p.Ala210Pro) rs1379201163
NM_005120.3(MED12):c.6297G>A (p.Gln2099=) rs1480313864
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.6318GCA[5] (p.Gln2115dup) rs1168018409
NM_005120.3(MED12):c.6321_6335del (p.Gln2111_Gln2115del) rs727503869
NM_005120.3(MED12):c.6330A>G (p.Gln2110=)
NM_005120.3(MED12):c.6336A>G (p.Gln2112=)
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.6365A>G (p.Gln2122Arg) rs2147842352
NM_005120.3(MED12):c.6409-71dup rs371432455
NM_005120.3(MED12):c.6418C>T (p.Gln2140Ter) rs2147844739
NM_005120.3(MED12):c.641G>A (p.Gly214Asp)
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.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.736-53_736-40dup rs71951253
NM_005120.3(MED12):c.85C>A (p.Pro29Thr) rs2147767136
NM_005120.3(MED12):c.887G>A (p.Arg296Gln) rs1556334519
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.93G>C (p.Gln31His) rs1057521988
NM_005120.3(MED12):c.956T>C (p.Val319Ala) rs2147779816
NM_005120.3(MED12):c.994C>T (p.Pro332Ser)

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