ClinVar Miner

List of variants in gene MED13L

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 414
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HGVS dbSNP
GRCh37/hg19 12q24.21(chr12:116064267-116750726)x1
GRCh37/hg19 12q24.21(chr12:116299467-116528515)x3
GRCh37/hg19 12q24.21(chr12:116318205-116408746)x3
GRCh37/hg19 12q24.21(chr12:116321989-116681294)x3
GRCh37/hg19 12q24.21(chr12:116326288-116417238)x3
GRCh37/hg19 12q24.21(chr12:116327565-116409453)x3
GRCh37/hg19 12q24.21(chr12:116374312-116535323)x3
GRCh37/hg19 12q24.21(chr12:116399137-116714901)x3
GRCh37/hg19 12q24.21(chr12:116414991-116639877)x3
GRCh37/hg19 12q24.21(chr12:116417092-116639877)x3
GRCh37/hg19 12q24.21(chr12:116417092-116698142)x3
GRCh37/hg19 12q24.21(chr12:116443463-116457804)x1
GRCh37/hg19 12q24.21(chr12:116446308-116638445)
GRCh37/hg19 12q24.21(chr12:116462247-116603459)x1
GRCh37/hg19 12q24.21(chr12:116481669-116569556)x1
GRCh37/hg19 12q24.21(chr12:116484240-116564043)
GRCh37/hg19 12q24.21(chr12:116497982-116534949)x1
GRCh37/hg19 12q24.21(chr12:116498873-116536921)x1
GRCh37/hg19 12q24.21(chr12:116498873-116621185)x1
GRCh37/hg19 12q24.21(chr12:116503127-116558092)x1
GRCh37/hg19 12q24.21(chr12:116526507-116528428)x1
GRCh37/hg19 12q24.21(chr12:116526507-116536921)x1
GRCh37/hg19 12q24.21(chr12:116526663-116528428)x1
GRCh37/hg19 12q24.21(chr12:116528514-116605811)x1
GRCh37/hg19 12q24.21(chr12:116534474-116549317)x1
GRCh37/hg19 12q24.21(chr12:116622732-116685976)
GRCh37/hg19 12q24.21(chr12:116673140-116676995)x1
GRCh38/hg38 12q24.21(chr12:116019418-116054358)x1
NC_000012.11:g.(?_116534454)_(116534577_?)del
NC_000012.12:g.(?_115961246)_(116096772_?)del
NC_000012.12:g.(?_115982183)_(116022795_?)del
NM_015335.4(MED13L):c.1008A>C (p.Leu336=) rs150782464
NM_015335.4(MED13L):c.1010-11dup rs771044608
NM_015335.4(MED13L):c.1029G>C (p.Gln343His) rs749587320
NM_015335.4(MED13L):c.1044C>T (p.His348=) rs778123143
NM_015335.4(MED13L):c.1059T>C (p.Asp353=) rs1592949351
NM_015335.4(MED13L):c.1095G>A (p.Ser365=) rs144327790
NM_015335.4(MED13L):c.1109_1110del (p.Pro370fs) rs1566011496
NM_015335.4(MED13L):c.1124A>G (p.His375Arg) rs376059806
NM_015335.4(MED13L):c.1175+5G>A rs567368642
NM_015335.4(MED13L):c.1176-1G>A rs1566010195
NM_015335.4(MED13L):c.1186del (p.Met396fs) rs1064794013
NM_015335.4(MED13L):c.1198A>G (p.Thr400Ala) rs143469047
NM_015335.4(MED13L):c.1215T>G (p.Pro405=) rs147976467
NM_015335.4(MED13L):c.124dup (p.Asp42fs) rs869312875
NM_015335.4(MED13L):c.1260A>C (p.Arg420Ser) rs768900677
NM_015335.4(MED13L):c.1283A>G (p.His428Arg) rs144410580
NM_015335.4(MED13L):c.1308C>T (p.Val436=) rs149631695
NM_015335.4(MED13L):c.1316A>G (p.Asn439Ser) rs189898124
NM_015335.4(MED13L):c.1336C>T (p.Gln446Ter) rs886041503
NM_015335.4(MED13L):c.1338_1341dup (p.Gly448fs) rs1555248025
NM_015335.4(MED13L):c.1361C>G (p.Ser454Ter) rs1555248020
NM_015335.4(MED13L):c.1385C>T (p.Pro462Leu) rs772715909
NM_015335.4(MED13L):c.1503A>G (p.Gln501=) rs538329234
NM_015335.4(MED13L):c.150A>T (p.Pro50=) rs778797919
NM_015335.4(MED13L):c.1543T>G (p.Ser515Ala) rs777986630
NM_015335.4(MED13L):c.1590C>T (p.Ala530=) rs114269768
NM_015335.4(MED13L):c.1690C>T (p.Arg564Ter) rs1555247936
NM_015335.4(MED13L):c.1725G>A (p.Ser575=) rs77263223
NM_015335.4(MED13L):c.1785G>C (p.Leu595=) rs1592942104
NM_015335.4(MED13L):c.1858_1860delinsCTCGAACA (p.Gly620fs) rs1555247853
NM_015335.4(MED13L):c.1863T>C (p.Ile621=) rs61748071
NM_015335.4(MED13L):c.1877C>T (p.Pro626Leu) rs186297695
NM_015335.4(MED13L):c.1904G>A (p.Ser635Asn) rs144457722
NM_015335.4(MED13L):c.1914C>T (p.Leu638=) rs1279215396
NM_015335.4(MED13L):c.1928A>G (p.Asp643Gly) rs1344076513
NM_015335.4(MED13L):c.1943C>G (p.Pro648Arg) rs1322326599
NM_015335.4(MED13L):c.1971del (p.Asp657fs) rs1555247805
NM_015335.4(MED13L):c.1992dup (p.Glu665fs) rs1057518424
NM_015335.4(MED13L):c.1A>G (p.Met1Val) rs1131691818
NM_015335.4(MED13L):c.2013-5T>C rs372464585
NM_015335.4(MED13L):c.2013-8_2013-7insTTTTTTTTTTTTTTTTTT rs771649019
NM_015335.4(MED13L):c.2056A>C (p.Lys686Gln) rs139048741
NM_015335.4(MED13L):c.2059C>T (p.Gln687Ter) rs1555247699
NM_015335.4(MED13L):c.2065C>T (p.Gln689Ter) rs1592940794
NM_015335.4(MED13L):c.2107C>T (p.Gln703Ter) rs1555247672
NM_015335.4(MED13L):c.2239-2A>G rs1555247469
NM_015335.4(MED13L):c.2316_2317del (p.Met772fs) rs1566005476
NM_015335.4(MED13L):c.2333C>T (p.Ala778Val) rs1555247422
NM_015335.4(MED13L):c.2345-3C>G rs1592939069
NM_015335.4(MED13L):c.2352G>T (p.Arg784=) rs1226259653
NM_015335.4(MED13L):c.2354A>T (p.Gln785Leu) rs1555247342
NM_015335.4(MED13L):c.2399dup (p.Thr801fs) rs1135401766
NM_015335.4(MED13L):c.240C>T (p.Cys80=) rs1593196040
NM_015335.4(MED13L):c.2488C>T (p.Arg830Cys) rs375719087
NM_015335.4(MED13L):c.2504del (p.Pro835fs) rs1555246952
NM_015335.4(MED13L):c.2524C>T (p.Arg842Ter) rs1064793483
NM_015335.4(MED13L):c.2570-7T>C rs768826816
NM_015335.4(MED13L):c.2579A>G (p.Asp860Gly) rs1555246154
NM_015335.4(MED13L):c.2581T>C (p.Leu861=) rs1592930332
NM_015335.4(MED13L):c.2590A>T (p.Met864Leu) rs886039599
NM_015335.4(MED13L):c.2591T>A (p.Met864Lys) rs1057520056
NM_015335.4(MED13L):c.2597C>T (p.Pro866Leu) rs1555246145
NM_015335.4(MED13L):c.2600C>T (p.Thr867Ile) rs1555246143
NM_015335.4(MED13L):c.2604A>G (p.Pro868=) rs772409015
NM_015335.4(MED13L):c.2605C>A (p.Pro869Thr) rs1057524103
NM_015335.4(MED13L):c.2633C>T (p.Ser878Phe) rs1064794939
NM_015335.4(MED13L):c.2636C>T (p.Pro879Leu) rs1064795068
NM_015335.4(MED13L):c.263G>A (p.Trp88Ter)
NM_015335.4(MED13L):c.2682A>G (p.Ala894=) rs146390612
NM_015335.4(MED13L):c.2778C>T (p.Pro926=) rs144357346
NM_015335.4(MED13L):c.2871G>A (p.Pro957=) rs771187948
NM_015335.4(MED13L):c.2930C>T (p.Ala977Val) rs1131691671
NM_015335.4(MED13L):c.3063C>T (p.Pro1021=) rs142191700
NM_015335.4(MED13L):c.3069G>A (p.Thr1023=) rs780149328
NM_015335.4(MED13L):c.311-13dup rs150398214
NM_015335.4(MED13L):c.3133C>T (p.Arg1045Cys) rs1565997620
NM_015335.4(MED13L):c.3273C>T (p.Pro1091=) rs145072799
NM_015335.4(MED13L):c.3306A>G (p.Pro1102=) rs375910790
NM_015335.4(MED13L):c.3354C>T (p.Ser1118=) rs368878357
NM_015335.4(MED13L):c.3428C>T (p.Ala1143Val) rs763939921
NM_015335.4(MED13L):c.3450C>T (p.Pro1150=) rs78561507
NM_015335.4(MED13L):c.3469C>T (p.Gln1157Ter) rs1555245108
NM_015335.4(MED13L):c.3479G>A (p.Cys1160Tyr) rs1565997289
NM_015335.4(MED13L):c.3498G>A (p.Ala1166=) rs200960898
NM_015335.4(MED13L):c.3498G>T (p.Ala1166=) rs200960898
NM_015335.4(MED13L):c.3512A>G (p.Lys1171Arg) rs147863200
NM_015335.4(MED13L):c.3517G>A (p.Gly1173Ser) rs201987892
NM_015335.4(MED13L):c.3518G>T (p.Gly1173Val) rs773730403
NM_015335.4(MED13L):c.3519_3521delinsT (p.Tyr1174fs) rs1565997261
NM_015335.4(MED13L):c.3606G>A (p.Met1202Ile) rs752751372
NM_015335.4(MED13L):c.3714T>G (p.Ala1238=) rs749014322
NM_015335.4(MED13L):c.3752G>A (p.Arg1251His) rs142574863
NM_015335.4(MED13L):c.3758C>T (p.Thr1253Ile) rs148416895
NM_015335.4(MED13L):c.3765del (p.Cys1256fs) rs147976828
NM_015335.4(MED13L):c.3788G>A (p.Arg1263Gln) rs374506267
NM_015335.4(MED13L):c.3819G>A (p.Thr1273=) rs542711978
NM_015335.4(MED13L):c.3834G>A (p.Ala1278=) rs145466664
NM_015335.4(MED13L):c.3866C>T (p.Pro1289Leu) rs200187663
NM_015335.4(MED13L):c.3934+3A>G rs747852225
NM_015335.4(MED13L):c.3935-1G>A rs1565995146
NM_015335.4(MED13L):c.3935-2A>G rs1555244216
NM_015335.4(MED13L):c.3942_3943del (p.Ile1315fs) rs1555244212
NM_015335.4(MED13L):c.401T>C (p.Leu134Pro) rs1565875400
NM_015335.4(MED13L):c.4051C>T (p.Gln1351Ter) rs1057524341
NM_015335.4(MED13L):c.4060C>T (p.Gln1354Ter) rs1565995054
NM_015335.4(MED13L):c.4077G>A (p.Trp1359Ter) rs1565995034
NM_015335.4(MED13L):c.40C>T (p.Leu14=) rs148454293
NM_015335.4(MED13L):c.4115-10G>C rs1031922673
NM_015335.4(MED13L):c.4115-7A>T rs1054976642
NM_015335.4(MED13L):c.4224G>T (p.Leu1408Phe) rs1565994535
NM_015335.4(MED13L):c.4275A>G (p.Pro1425=) rs112942800
NM_015335.4(MED13L):c.4339-10A>G rs376463996
NM_015335.4(MED13L):c.4353G>A (p.Gly1451=) rs563931035
NM_015335.4(MED13L):c.4368C>T (p.Ile1456=) rs1592915963
NM_015335.4(MED13L):c.4386C>T (p.Asp1462=) rs760971347
NM_015335.4(MED13L):c.4387G>A (p.Gly1463Arg) rs1555243607
NM_015335.4(MED13L):c.4396C>T (p.Arg1466Cys) rs530432287
NM_015335.4(MED13L):c.43G>T (p.Glu15Ter) rs1057520775
NM_015335.4(MED13L):c.4403dup (p.Thr1470fs) rs1131691764
NM_015335.4(MED13L):c.4452del (p.Phe1484fs) rs1555243582
NM_015335.4(MED13L):c.4456C>T (p.Gln1486Ter) rs1555243580
NM_015335.4(MED13L):c.4459C>A (p.Pro1487Thr) rs146112707
NM_015335.4(MED13L):c.4467C>T (p.Ser1489=) rs141892892
NM_015335.4(MED13L):c.451G>A (p.Glu151Lys) rs773315749
NM_015335.4(MED13L):c.4522C>T (p.His1508Tyr) rs75575870
NM_015335.4(MED13L):c.4577del (p.Pro1526fs) rs1057518262
NM_015335.4(MED13L):c.4593C>T (p.Thr1531=) rs138774472
NM_015335.4(MED13L):c.4609C>T (p.Gln1537Ter) rs1555243400
NM_015335.4(MED13L):c.4691C>T (p.Pro1564Leu) rs112709561
NM_015335.4(MED13L):c.4697C>T (p.Ser1566Leu) rs113890513
NM_015335.4(MED13L):c.4716del (p.Pro1573fs) rs1064796113
NM_015335.4(MED13L):c.4744T>A (p.Ser1582Thr) rs150222863
NM_015335.4(MED13L):c.4758G>A (p.Pro1586=) rs141818426
NM_015335.4(MED13L):c.4767G>A (p.Ser1589=) rs573917510
NM_015335.4(MED13L):c.4788T>A (p.Ile1596=) rs757338321
NM_015335.4(MED13L):c.480-1G>T rs869025288
NM_015335.4(MED13L):c.4853C>G (p.Thr1618Ser) rs150339628
NM_015335.4(MED13L):c.4868C>T (p.Ala1623Val) rs201484832
NM_015335.4(MED13L):c.4880A>G (p.Gln1627Arg) rs752932375
NM_015335.4(MED13L):c.4956-10C>G rs1060504701
NM_015335.4(MED13L):c.4956-2A>C rs1057518705
NM_015335.4(MED13L):c.4956-5T>A rs771118133
NM_015335.4(MED13L):c.4989G>A (p.Thr1663=) rs755349611
NM_015335.4(MED13L):c.501C>T (p.Phe167=) rs1383072937
NM_015335.4(MED13L):c.5033T>A (p.Val1678Asp) rs1555243099
NM_015335.4(MED13L):c.5040C>T (p.Tyr1680=) rs1592913487
NM_015335.4(MED13L):c.5058G>A (p.Thr1686=) rs74757206
NM_015335.4(MED13L):c.5083dup (p.Ser1695fs) rs1555243086
NM_015335.4(MED13L):c.5134G>A (p.Asp1712Asn) rs1565992052
NM_015335.4(MED13L):c.5162C>T (p.Ser1721Phe) rs755513948
NM_015335.4(MED13L):c.516_517delinsAT (p.His172_Gly173delinsGlnTer) rs1555250044
NM_015335.4(MED13L):c.5173C>T (p.Gln1725Ter) rs1135401765
NM_015335.4(MED13L):c.5175G>T (p.Gln1725His) rs1555243051
NM_015335.4(MED13L):c.5278C>T (p.Arg1760Ter) rs886041448
NM_015335.4(MED13L):c.5285del (p.Leu1762fs) rs886043314
NM_015335.4(MED13L):c.5316G>A (p.Thr1772=) rs746426523
NM_015335.4(MED13L):c.5409C>T (p.Ala1803=) rs756949902
NM_015335.4(MED13L):c.5444del (p.Thr1815fs) rs879255407
NM_015335.4(MED13L):c.546G>A (p.Glu182=) rs781132536
NM_015335.4(MED13L):c.5502C>T (p.His1834=) rs200440551
NM_015335.4(MED13L):c.5502del (p.His1834fs) rs1565987758
NM_015335.4(MED13L):c.5588+1G>A rs1135401810
NM_015335.4(MED13L):c.5589-1G>A rs1064796543
NM_015335.4(MED13L):c.5615G>A (p.Arg1872His) rs28940310
NM_015335.4(MED13L):c.5631G>T (p.Gln1877His) rs1555241858
NM_015335.4(MED13L):c.5658T>A (p.Ile1886=) rs1592904456
NM_015335.4(MED13L):c.5732-3C>T rs370245982
NM_015335.4(MED13L):c.5768C>T (p.Thr1923Ile) rs149651647
NM_015335.4(MED13L):c.5785A>G (p.Lys1929Glu) rs1064795586
NM_015335.4(MED13L):c.579T>C (p.Asn193=) rs11067880
NM_015335.4(MED13L):c.57C>A (p.Ser19=) rs1060504702
NM_015335.4(MED13L):c.5802G>A (p.Met1934Ile) rs554093251
NM_015335.4(MED13L):c.5809A>C (p.Ile1937Leu) rs143602183
NM_015335.4(MED13L):c.5827C>A (p.Pro1943Thr) rs1555241424
NM_015335.4(MED13L):c.5866C>T (p.Gln1956Ter) rs1565985681
NM_015335.4(MED13L):c.5949T>C (p.Ser1983=) rs755349550
NM_015335.4(MED13L):c.5955C>T (p.Leu1985=) rs113830913
NM_015335.4(MED13L):c.5965C>T (p.Gln1989Ter) rs1555241166
NM_015335.4(MED13L):c.5996_5998delinsGTA (p.Phe1999_Pro2000delinsCysThr) rs1555241160
NM_015335.4(MED13L):c.601C>T (p.Gln201Ter) rs1029377279
NM_015335.4(MED13L):c.6068-8C>T rs61936939
NM_015335.4(MED13L):c.6068A>G (p.Asp2023Gly) rs121918333
NM_015335.4(MED13L):c.6073dup (p.Met2025fs) rs1131691386
NM_015335.4(MED13L):c.607dup (p.Ser203fs) rs869025291
NM_015335.4(MED13L):c.60C>T (p.Asn20=) rs746193221
NM_015335.4(MED13L):c.6118_6125del (p.Gly2040fs) rs869025287
NM_015335.4(MED13L):c.6155A>C (p.Asn2052Thr) rs766487372
NM_015335.4(MED13L):c.626-10C>A rs776407123
NM_015335.4(MED13L):c.626-2A>G rs1555249664
NM_015335.4(MED13L):c.626-4A>G rs768048151
NM_015335.4(MED13L):c.6260del (p.Pro2087fs) rs1565982697
NM_015335.4(MED13L):c.6280C>A (p.Pro2094Thr) rs1555240376
NM_015335.4(MED13L):c.6284dup (p.Ala2096fs) rs886041624
NM_015335.4(MED13L):c.6311C>T (p.Ala2104Val) rs1177608611
NM_015335.4(MED13L):c.6331C>T (p.Gln2111Ter) rs1555240361
NM_015335.4(MED13L):c.6336G>A (p.Trp2112Ter) rs1555240359
NM_015335.4(MED13L):c.6348G>A (p.Ser2116=) rs769874135
NM_015335.4(MED13L):c.6418C>T (p.Gln2140Ter) rs1555239936
NM_015335.4(MED13L):c.6485C>T (p.Thr2162Met) rs869312707
NM_015335.4(MED13L):c.6486G>A (p.Thr2162=) rs763493523
NM_015335.4(MED13L):c.6488C>T (p.Ser2163Leu) rs1565981137
NM_015335.4(MED13L):c.650A>C (p.Asn217Thr) rs772021396
NM_015335.4(MED13L):c.6522C>T (p.Asn2174=) rs370692319
NM_015335.4(MED13L):c.6545A>G (p.Asn2182Ser) rs762926166
NM_015335.4(MED13L):c.6556C>T (p.Gln2186Ter) rs1555239555
NM_015335.4(MED13L):c.656C>T (p.Thr219Met) rs191743300
NM_015335.4(MED13L):c.6570dup (p.Cys2191fs) rs1592888491
NM_015335.4(MED13L):c.690A>G (p.Pro230=) rs1592953981
NM_015335.4(MED13L):c.72+10C>T rs779448093
NM_015335.4(MED13L):c.722A>G (p.Tyr241Cys) rs564830776
NM_015335.4(MED13L):c.73-1G>A rs1555225472
NM_015335.4(MED13L):c.73-5del rs1593196291
NM_015335.4(MED13L):c.73-7T>C rs199550041
NM_015335.4(MED13L):c.752A>G (p.Glu251Gly) rs28940309
NM_015335.4(MED13L):c.771C>T (p.Asp257=) rs148136300
NM_015335.4(MED13L):c.878C>T (p.Pro293Leu) rs537593859
NM_015335.4(MED13L):c.878del (p.Pro293fs) rs1555249561
NM_015335.4(MED13L):c.948G>A (p.Lys316=) rs61748072
NM_015335.5(MED13L):c.1009+5G>C
NM_015335.5(MED13L):c.1077_1093del (p.Met359fs)
NM_015335.5(MED13L):c.1091G>A (p.Arg364Lys)
NM_015335.5(MED13L):c.1127T>G (p.Met376Arg)
NM_015335.5(MED13L):c.1135C>T (p.Arg379Ter)
NM_015335.5(MED13L):c.1162_1166del (p.Arg388fs)
NM_015335.5(MED13L):c.1175+20T>C
NM_015335.5(MED13L):c.1185A>C (p.Gln395His)
NM_015335.5(MED13L):c.1405dup (p.Thr469fs)
NM_015335.5(MED13L):c.1420G>T (p.Glu474Ter)
NM_015335.5(MED13L):c.1423A>G (p.Lys475Glu)
NM_015335.5(MED13L):c.1496dup (p.Met499fs)
NM_015335.5(MED13L):c.1564A>G (p.Ser522Gly)
NM_015335.5(MED13L):c.1656A>G (p.Ile552Met)
NM_015335.5(MED13L):c.1708_1709del (p.Ser570fs) rs869025286
NM_015335.5(MED13L):c.1724C>T (p.Ser575Leu)
NM_015335.5(MED13L):c.173T>A (p.Leu58Ter)
NM_015335.5(MED13L):c.1765C>T (p.Leu589Phe)
NM_015335.5(MED13L):c.1773G>A (p.Gln591=)
NM_015335.5(MED13L):c.1852dup (p.Tyr618fs)
NM_015335.5(MED13L):c.1855T>G (p.Cys619Gly)
NM_015335.5(MED13L):c.1910G>A (p.Arg637His)
NM_015335.5(MED13L):c.1941_1948del (p.Pro648fs) rs1592941857
NM_015335.5(MED13L):c.1994_1997del (p.Glu665fs) rs1555247800
NM_015335.5(MED13L):c.1A>T (p.Met1Leu)
NM_015335.5(MED13L):c.2012+10CT[2] rs564143152
NM_015335.5(MED13L):c.2013-10_2013-9insTG
NM_015335.5(MED13L):c.2013-7C>T
NM_015335.5(MED13L):c.2014C>T (p.Leu672Phe)
NM_015335.5(MED13L):c.2019A>T (p.Leu673Phe)
NM_015335.5(MED13L):c.2036G>A (p.Arg679Gln)
NM_015335.5(MED13L):c.2061G>T (p.Gln687His)
NM_015335.5(MED13L):c.2071C>T (p.Gln691Ter)
NM_015335.5(MED13L):c.2075C>G (p.Pro692Arg)
NM_015335.5(MED13L):c.2090_2091insGAGCCACT (p.Asp697fs)
NM_015335.5(MED13L):c.2117G>A (p.Gly706Glu)
NM_015335.5(MED13L):c.2239-7T>C
NM_015335.5(MED13L):c.2240C>T (p.Ser747Leu)
NM_015335.5(MED13L):c.2292G>A (p.Pro764=)
NM_015335.5(MED13L):c.2318del (p.Ser773fs)
NM_015335.5(MED13L):c.2330C>G (p.Ser777Cys)
NM_015335.5(MED13L):c.2340_2343del (p.Thr781fs)
NM_015335.5(MED13L):c.2350C>T (p.Arg784Trp)
NM_015335.5(MED13L):c.2363C>T (p.Ala788Val)
NM_015335.5(MED13L):c.2468G>A (p.Gly823Glu)
NM_015335.5(MED13L):c.2605C>T (p.Pro869Ser)
NM_015335.5(MED13L):c.2791-3C>T
NM_015335.5(MED13L):c.2812G>A (p.Val938Ile)
NM_015335.5(MED13L):c.2832T>A (p.Phe944Leu)
NM_015335.5(MED13L):c.2911C>T (p.Leu971=)
NM_015335.5(MED13L):c.2911_2914del (p.Leu971fs) rs1064796611
NM_015335.5(MED13L):c.293_294del (p.Ile98fs)
NM_015335.5(MED13L):c.2996+1G>A
NM_015335.5(MED13L):c.3033C>G (p.Asp1011Glu)
NM_015335.5(MED13L):c.3070T>C (p.Leu1024=)
NM_015335.5(MED13L):c.3090_3093del (p.Ser1031fs) rs1555245254
NM_015335.5(MED13L):c.3154C>T (p.Arg1052Ter)
NM_015335.5(MED13L):c.3214G>A (p.Val1072Ile)
NM_015335.5(MED13L):c.3227G>A (p.Ser1076Asn)
NM_015335.5(MED13L):c.3284_3285del (p.Val1095fs)
NM_015335.5(MED13L):c.3347C>A (p.Ser1116Tyr)
NM_015335.5(MED13L):c.3409A>C (p.Asn1137His)
NM_015335.5(MED13L):c.3429G>A (p.Ala1143=)
NM_015335.5(MED13L):c.3461A>G (p.Asn1154Ser)
NM_015335.5(MED13L):c.3482C>T (p.Thr1161Ile) rs1592923871
NM_015335.5(MED13L):c.34del (p.Ala12fs) rs1593238375
NM_015335.5(MED13L):c.360G>A (p.Thr120=)
NM_015335.5(MED13L):c.3667A>G (p.Ile1223Val)
NM_015335.5(MED13L):c.3689A>G (p.Gln1230Arg)
NM_015335.5(MED13L):c.3718C>G (p.Leu1240Val)
NM_015335.5(MED13L):c.3726C>T (p.Phe1242=)
NM_015335.5(MED13L):c.3734A>G (p.Tyr1245Cys)
NM_015335.5(MED13L):c.3911_3912del (p.Val1304fs) rs1555244975
NM_015335.5(MED13L):c.392_395del (p.Glu131fs)
NM_015335.5(MED13L):c.395+1G>A
NM_015335.5(MED13L):c.401dup (p.Met135fs) rs1593039493
NM_015335.5(MED13L):c.4076G>A (p.Trp1359Ter) rs1592919048
NM_015335.5(MED13L):c.4083del (p.Gln1361fs)
NM_015335.5(MED13L):c.4106G>C (p.Gly1369Ala)
NM_015335.5(MED13L):c.4114+2T>A
NM_015335.5(MED13L):c.4120del (p.Glu1374fs)
NM_015335.5(MED13L):c.4123G>T (p.Glu1375Ter)
NM_015335.5(MED13L):c.4261A>G (p.Ile1421Val)
NM_015335.5(MED13L):c.4269G>T (p.Val1423=)
NM_015335.5(MED13L):c.4271_4276delinsTTCCC (p.Cys1424fs)
NM_015335.5(MED13L):c.4289_4290delinsAA (p.Leu1430Ter)
NM_015335.5(MED13L):c.4294G>A (p.Glu1432Lys)
NM_015335.5(MED13L):c.4300G>A (p.Ala1434Thr)
NM_015335.5(MED13L):c.4338+5G>A
NM_015335.5(MED13L):c.4358A>C (p.His1453Pro)
NM_015335.5(MED13L):c.4412_4413del (p.Val1471fs) rs1592915896
NM_015335.5(MED13L):c.4417C>T (p.Gln1473Ter)
NM_015335.5(MED13L):c.442C>T (p.Arg148Ter)
NM_015335.5(MED13L):c.443G>A (p.Arg148Gln)
NM_015335.5(MED13L):c.4467_4473del (p.Ser1489fs)
NM_015335.5(MED13L):c.4471G>A (p.Glu1491Lys)
NM_015335.5(MED13L):c.4576C>A (p.Pro1526Thr)
NM_015335.5(MED13L):c.4576C>G (p.Pro1526Ala)
NM_015335.5(MED13L):c.4622del (p.Thr1541fs)
NM_015335.5(MED13L):c.4693A>C (p.Thr1565Pro)
NM_015335.5(MED13L):c.4711A>G (p.Thr1571Ala)
NM_015335.5(MED13L):c.4814C>G (p.Ser1605Ter)
NM_015335.5(MED13L):c.4839G>A (p.Gly1613=)
NM_015335.5(MED13L):c.4907C>T (p.Thr1636Ile)
NM_015335.5(MED13L):c.4921_4922del (p.Ser1641fs)
NM_015335.5(MED13L):c.4975_4976insC (p.Ile1659fs)
NM_015335.5(MED13L):c.4988C>T (p.Thr1663Met)
NM_015335.5(MED13L):c.5052G>A (p.Pro1684=)
NM_015335.5(MED13L):c.5115C>T (p.Arg1705=)
NM_015335.5(MED13L):c.5119T>C (p.Tyr1707His)
NM_015335.5(MED13L):c.5152_5153del (p.Met1718fs) rs1555243059
NM_015335.5(MED13L):c.5269dup (p.Gln1757fs)
NM_015335.5(MED13L):c.5313C>T (p.Leu1771=)
NM_015335.5(MED13L):c.5321T>A (p.Phe1774Tyr) rs1592911270
NM_015335.5(MED13L):c.5365-1G>A
NM_015335.5(MED13L):c.5376A>G (p.Pro1792=)
NM_015335.5(MED13L):c.5383C>G (p.Leu1795Val)
NM_015335.5(MED13L):c.5471A>G (p.Asn1824Ser)
NM_015335.5(MED13L):c.5508G>A (p.Gln1836=)
NM_015335.5(MED13L):c.5559C>T (p.Thr1853=)
NM_015335.5(MED13L):c.5562C>A (p.Cys1854Ter)
NM_015335.5(MED13L):c.5563G>A (p.Val1855Ile)
NM_015335.5(MED13L):c.5625_5630del (p.Leu1876_Gln1877del)
NM_015335.5(MED13L):c.5626_5633del (p.Leu1876fs)
NM_015335.5(MED13L):c.5630A>G (p.Gln1877Arg)
NM_015335.5(MED13L):c.564A>G (p.Pro188=)
NM_015335.5(MED13L):c.5659G>A (p.Val1887Ile)
NM_015335.5(MED13L):c.5698C>T (p.Arg1900Ter)
NM_015335.5(MED13L):c.5716C>T (p.His1906Tyr)
NM_015335.5(MED13L):c.573G>C (p.Leu191Phe)
NM_015335.5(MED13L):c.5796_5806del (p.Cys1932fs)
NM_015335.5(MED13L):c.5850G>A (p.Leu1950=)
NM_015335.5(MED13L):c.5921G>A (p.Arg1974Gln)
NM_015335.5(MED13L):c.5928T>C (p.Thr1976=)
NM_015335.5(MED13L):c.5939T>A (p.Met1980Lys)
NM_015335.5(MED13L):c.5949_5950del (p.Gln1984fs) rs869025289
NM_015335.5(MED13L):c.5990dup (p.Leu1997fs)
NM_015335.5(MED13L):c.6013A>T (p.Ile2005Phe)
NM_015335.5(MED13L):c.603G>T (p.Gln201His)
NM_015335.5(MED13L):c.6079G>T (p.Val2027Phe)
NM_015335.5(MED13L):c.6226-1G>C
NM_015335.5(MED13L):c.6274C>G (p.Gln2092Glu)
NM_015335.5(MED13L):c.627dup (p.Leu210fs)
NM_015335.5(MED13L):c.6318T>C (p.Ala2106=)
NM_015335.5(MED13L):c.6347C>T (p.Ser2116Leu)
NM_015335.5(MED13L):c.6354C>T (p.Pro2118=)
NM_015335.5(MED13L):c.6367C>T (p.Gln2123Ter)
NM_015335.5(MED13L):c.6388-2A>G rs1592891007
NM_015335.5(MED13L):c.6461dup (p.His2155fs) rs1592890905
NM_015335.5(MED13L):c.6540G>A (p.Thr2180=)
NM_015335.5(MED13L):c.6580G>A (p.Val2194Ile)
NM_015335.5(MED13L):c.6583C>T (p.His2195Tyr)
NM_015335.5(MED13L):c.712G>T (p.Glu238Ter)
NM_015335.5(MED13L):c.73-10_73-9dup
NM_015335.5(MED13L):c.745A>T (p.Lys249Ter)
NM_015335.5(MED13L):c.747_748del (p.Lys250fs) rs1592953902
NM_015335.5(MED13L):c.760_1175+967del
NM_015335.5(MED13L):c.805G>A (p.Val269Ile)
NM_015335.5(MED13L):c.82dup (p.Thr28fs)
NM_015335.5(MED13L):c.969G>A (p.Met323Ile)
NM_015335.5(MED13L):c.970C>T (p.Pro324Ser)
NM_015335.5(MED13L):c.987del (p.Ser330fs)
NM_015335.5(MED13L):c.993A>G (p.Pro331=)
NM_015335.5(MED13L):c.995A>G (p.Glu332Gly)
t(12;19)(q24.21;q12)

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