ClinVar Miner

List of variants in gene MED13L reported by Invitae

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Gene type:
ClinVar version:
Total variants: 193
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HGVS dbSNP
NC_000012.11:g.(?_116534454)_(116534577_?)del
NC_000012.12:g.(?_115961246)_(116096772_?)del
NM_015335.4(MED13L):c.1008A>C (p.Leu336=) rs150782464
NM_015335.4(MED13L):c.1010-11dup rs771044608
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.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.1198A>G (p.Thr400Ala) rs143469047
NM_015335.4(MED13L):c.1215T>G (p.Pro405=) rs147976467
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.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.1590C>T (p.Ala530=) rs114269768
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.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.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.2316_2317del (p.Met772fs) rs1566005476
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.240C>T (p.Cys80=) rs1593196040
NM_015335.4(MED13L):c.2488C>T (p.Arg830Cys) rs375719087
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.2604A>G (p.Pro868=) rs772409015
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.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.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.3450C>T (p.Pro1150=) rs78561507
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.3512A>G (p.Lys1171Arg) rs147863200
NM_015335.4(MED13L):c.3517G>A (p.Gly1173Ser) rs201987892
NM_015335.4(MED13L):c.3519_3521delinsT (p.Tyr1174fs) rs1565997261
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.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.401T>C (p.Leu134Pro) rs1565875400
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.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.4396C>T (p.Arg1466Cys) rs530432287
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.4593C>T (p.Thr1531=) rs138774472
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.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.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.4956-5T>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.5040C>T (p.Tyr1680=) rs1592913487
NM_015335.4(MED13L):c.5058G>A (p.Thr1686=) rs74757206
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.5316G>A (p.Thr1772=) rs746426523
NM_015335.4(MED13L):c.5409C>T (p.Ala1803=) rs756949902
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.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.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.5949T>C (p.Ser1983=) rs755349550
NM_015335.4(MED13L):c.5955C>T (p.Leu1985=) rs113830913
NM_015335.4(MED13L):c.601C>T (p.Gln201Ter) rs1029377279
NM_015335.4(MED13L):c.6068-8C>T rs61936939
NM_015335.4(MED13L):c.60C>T (p.Asn20=) rs746193221
NM_015335.4(MED13L):c.626-10C>A rs776407123
NM_015335.4(MED13L):c.626-4A>G rs768048151
NM_015335.4(MED13L):c.6311C>T (p.Ala2104Val) rs1177608611
NM_015335.4(MED13L):c.6348G>A (p.Ser2116=) rs769874135
NM_015335.4(MED13L):c.6486G>A (p.Thr2162=) rs763493523
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.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.73-5del rs1593196291
NM_015335.4(MED13L):c.73-7T>C rs199550041
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.948G>A (p.Lys316=) rs61748072
NM_015335.5(MED13L):c.1091G>A (p.Arg364Lys)
NM_015335.5(MED13L):c.1127T>G (p.Met376Arg)
NM_015335.5(MED13L):c.1185A>C (p.Gln395His)
NM_015335.5(MED13L):c.1405dup (p.Thr469fs)
NM_015335.5(MED13L):c.1423A>G (p.Lys475Glu)
NM_015335.5(MED13L):c.1564A>G (p.Ser522Gly)
NM_015335.5(MED13L):c.1724C>T (p.Ser575Leu)
NM_015335.5(MED13L):c.1765C>T (p.Leu589Phe)
NM_015335.5(MED13L):c.1773G>A (p.Gln591=)
NM_015335.5(MED13L):c.1910G>A (p.Arg637His)
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.2117G>A (p.Gly706Glu)
NM_015335.5(MED13L):c.2239-7T>C
NM_015335.5(MED13L):c.2292G>A (p.Pro764=)
NM_015335.5(MED13L):c.2350C>T (p.Arg784Trp)
NM_015335.5(MED13L):c.2468G>A (p.Gly823Glu)
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.3070T>C (p.Leu1024=)
NM_015335.5(MED13L):c.3214G>A (p.Val1072Ile)
NM_015335.5(MED13L):c.3347C>A (p.Ser1116Tyr)
NM_015335.5(MED13L):c.3429G>A (p.Ala1143=)
NM_015335.5(MED13L):c.360G>A (p.Thr120=)
NM_015335.5(MED13L):c.3667A>G (p.Ile1223Val)
NM_015335.5(MED13L):c.3726C>T (p.Phe1242=)
NM_015335.5(MED13L):c.3734A>G (p.Tyr1245Cys)
NM_015335.5(MED13L):c.4106G>C (p.Gly1369Ala)
NM_015335.5(MED13L):c.4269G>T (p.Val1423=)
NM_015335.5(MED13L):c.4289_4290delinsAA (p.Leu1430Ter)
NM_015335.5(MED13L):c.4471G>A (p.Glu1491Lys)
NM_015335.5(MED13L):c.4576C>G (p.Pro1526Ala)
NM_015335.5(MED13L):c.4839G>A (p.Gly1613=)
NM_015335.5(MED13L):c.4907C>T (p.Thr1636Ile)
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.5313C>T (p.Leu1771=)
NM_015335.5(MED13L):c.5376A>G (p.Pro1792=)
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.5563G>A (p.Val1855Ile)
NM_015335.5(MED13L):c.564A>G (p.Pro188=)
NM_015335.5(MED13L):c.5716C>T (p.His1906Tyr)
NM_015335.5(MED13L):c.573G>C (p.Leu191Phe)
NM_015335.5(MED13L):c.5928T>C (p.Thr1976=)
NM_015335.5(MED13L):c.5939T>A (p.Met1980Lys)
NM_015335.5(MED13L):c.603G>T (p.Gln201His)
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.6540G>A (p.Thr2180=)
NM_015335.5(MED13L):c.712G>T (p.Glu238Ter)
NM_015335.5(MED13L):c.73-10_73-9dup
NM_015335.5(MED13L):c.805G>A (p.Val269Ile)
NM_015335.5(MED13L):c.969G>A (p.Met323Ile)

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