ClinVar Miner

List of variants reported as likely benign for Transposition of the great arteries, dextro-looped

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 434
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HGVS dbSNP gnomAD frequency
NM_015335.5(MED13L):c.2013-7C>T rs199749418 0.12825
NM_015335.5(MED13L):c.4522C>T (p.His1508Tyr) rs75575870 0.00136
NM_015335.5(MED13L):c.2013-5T>C rs372464585 0.00059
NM_015335.5(MED13L):c.1910G>A (p.Arg637His) rs146499452 0.00052
NM_015335.5(MED13L):c.73-7T>C rs199550041 0.00048
NM_015335.5(MED13L):c.5809A>C (p.Ile1937Leu) rs143602183 0.00044
NM_015335.5(MED13L):c.4459C>A (p.Pro1487Thr) rs146112707 0.00041
NM_015335.5(MED13L):c.4691C>T (p.Pro1564Leu) rs112709561 0.00041
NM_015335.5(MED13L):c.2703_2705dup (p.Pro901_Met902insIle) rs556713164 0.00035
NM_015335.5(MED13L):c.3214G>A (p.Val1072Ile) rs142907547 0.00035
NM_015335.5(MED13L):c.1877C>T (p.Pro626Leu) rs186297695 0.00034
NM_015335.5(MED13L):c.4697C>T (p.Ser1566Leu) rs113890513 0.00032
NM_015335.5(MED13L):c.5502C>T (p.His1834=) rs200440551 0.00024
NM_015335.5(MED13L):c.5732-3C>T rs370245982 0.00024
NM_015335.5(MED13L):c.3866C>T (p.Pro1289Leu) rs200187663 0.00023
NM_015335.5(MED13L):c.4853C>G (p.Thr1618Ser) rs150339628 0.00023
NM_015335.5(MED13L):c.5559C>T (p.Thr1853=) rs141451756 0.00020
NM_015335.5(MED13L):c.1316A>G (p.Asn439Ser) rs189898124 0.00019
NM_015335.5(MED13L):c.201C>T (p.Asn67=) rs144509091 0.00019
NM_015335.5(MED13L):c.4339-10A>G rs376463996 0.00019
NM_015335.5(MED13L):c.969G>A (p.Met323Ile) rs141207031 0.00017
NM_015335.5(MED13L):c.878C>T (p.Pro293Leu) rs537593859 0.00015
NM_015335.5(MED13L):c.3063C>T (p.Pro1021=) rs142191700 0.00013
NM_015335.5(MED13L):c.4989G>A (p.Thr1663=) rs755349611 0.00012
NM_015335.5(MED13L):c.2292G>A (p.Pro764=) rs754150111 0.00011
NM_015335.5(MED13L):c.3079G>A (p.Ala1027Thr) rs757625355 0.00011
NM_015335.5(MED13L):c.5508G>A (p.Gln1836=) rs150860907 0.00011
NM_015335.5(MED13L):c.5563G>A (p.Val1855Ile) rs182752795 0.00011
NM_015335.5(MED13L):c.1970A>T (p.Asp657Val) rs775442091 0.00010
NM_015335.5(MED13L):c.2682A>G (p.Ala894=) rs146390612 0.00010
NM_015335.5(MED13L):c.656C>T (p.Thr219Met) rs191743300 0.00010
NM_015335.5(MED13L):c.3935-12C>T rs764151600 0.00009
NM_015335.5(MED13L):c.1308C>T (p.Val436=) rs149631695 0.00008
NM_015335.5(MED13L):c.1564A>G (p.Ser522Gly) rs201414612 0.00008
NM_015335.5(MED13L):c.5768C>T (p.Thr1923Ile) rs149651647 0.00008
NM_015335.5(MED13L):c.5562C>T (p.Cys1854=) rs139063441 0.00007
NM_015335.5(MED13L):c.2035C>T (p.Arg679Trp) rs368437832 0.00006
NM_015335.5(MED13L):c.3354C>T (p.Ser1118=) rs368878357 0.00006
NM_015335.5(MED13L):c.4868C>T (p.Ala1623Val) rs201484832 0.00006
NM_015335.5(MED13L):c.5115C>T (p.Arg1705=) rs370324246 0.00006
NM_015335.5(MED13L):c.5949T>C (p.Ser1983=) rs755349550 0.00006
NM_015335.5(MED13L):c.2570-7T>C rs768826816 0.00005
NM_015335.5(MED13L):c.573G>C (p.Leu191Phe) rs201690921 0.00005
NM_015335.5(MED13L):c.1503A>G (p.Gln501=) rs538329234 0.00004
NM_015335.5(MED13L):c.3273C>T (p.Pro1091=) rs145072799 0.00004
NM_015335.5(MED13L):c.3306A>G (p.Pro1102=) rs375910790 0.00004
NM_015335.5(MED13L):c.4396C>T (p.Arg1466Cys) rs530432287 0.00004
NM_015335.5(MED13L):c.6348G>A (p.Ser2116=) rs769874135 0.00004
NM_015335.5(MED13L):c.6522C>T (p.Asn2174=) rs370692319 0.00004
NM_015335.5(MED13L):c.1124A>G (p.His375Arg) rs376059806 0.00003
NM_015335.5(MED13L):c.1855T>G (p.Cys619Gly) rs1345208839 0.00003
NM_015335.5(MED13L):c.2196A>G (p.Lys732=) rs545013557 0.00003
NM_015335.5(MED13L):c.2470-13C>T rs757038374 0.00003
NM_015335.5(MED13L):c.2913G>T (p.Leu971=) rs201948814 0.00003
NM_015335.5(MED13L):c.3752G>A (p.Arg1251His) rs142574863 0.00003
NM_015335.5(MED13L):c.3819G>A (p.Thr1273=) rs542711978 0.00003
NM_015335.5(MED13L):c.564A>G (p.Pro188=) rs370983626 0.00003
NM_015335.5(MED13L):c.5850G>A (p.Leu1950=) rs1482014512 0.00003
NM_015335.5(MED13L):c.626-10C>A rs776407123 0.00003
NM_015335.5(MED13L):c.626-4A>G rs768048151 0.00003
NM_015335.5(MED13L):c.672A>T (p.Ala224=) rs756122556 0.00003
NM_015335.5(MED13L):c.1765C>T (p.Leu589Phe) rs372595490 0.00002
NM_015335.5(MED13L):c.4269G>T (p.Val1423=) rs997965874 0.00002
NM_015335.5(MED13L):c.4788T>A (p.Ile1596=) rs757338321 0.00002
NM_015335.5(MED13L):c.479+18T>C rs200912170 0.00002
NM_015335.5(MED13L):c.5058G>A (p.Thr1686=) rs74757206 0.00002
NM_015335.5(MED13L):c.5162C>T (p.Ser1721Phe) rs755513948 0.00002
NM_015335.5(MED13L):c.6486G>A (p.Thr2162=) rs763493523 0.00002
NM_015335.5(MED13L):c.6549G>A (p.Pro2183=) rs768288594 0.00002
NM_015335.5(MED13L):c.1091G>A (p.Arg364Lys) rs993003177 0.00001
NM_015335.5(MED13L):c.1175+5G>A rs567368642 0.00001
NM_015335.5(MED13L):c.1385C>T (p.Pro462Leu) rs772715909 0.00001
NM_015335.5(MED13L):c.1601G>T (p.Arg534Ile) rs775387694 0.00001
NM_015335.5(MED13L):c.1859G>A (p.Gly620Glu) rs780566155 0.00001
NM_015335.5(MED13L):c.2075C>G (p.Pro692Arg) rs781324695 0.00001
NM_015335.5(MED13L):c.2211G>A (p.Thr737=) rs747879843 0.00001
NM_015335.5(MED13L):c.2570-11C>G rs765381458 0.00001
NM_015335.5(MED13L):c.2871G>A (p.Pro957=) rs771187948 0.00001
NM_015335.5(MED13L):c.3000C>T (p.Asn1000=) rs775221277 0.00001
NM_015335.5(MED13L):c.360G>A (p.Thr120=) rs534984622 0.00001
NM_015335.5(MED13L):c.3834G>A (p.Ala1278=) rs145466664 0.00001
NM_015335.5(MED13L):c.4275A>G (p.Pro1425=) rs112942800 0.00001
NM_015335.5(MED13L):c.4368C>T (p.Ile1456=) rs1592915963 0.00001
NM_015335.5(MED13L):c.4386C>T (p.Asp1462=) rs760971347 0.00001
NM_015335.5(MED13L):c.4839G>A (p.Gly1613=) rs754275970 0.00001
NM_015335.5(MED13L):c.4956-10C>G rs1060504701 0.00001
NM_015335.5(MED13L):c.4956-5T>A rs771118133 0.00001
NM_015335.5(MED13L):c.4988C>T (p.Thr1663Met) rs142102185 0.00001
NM_015335.5(MED13L):c.5052G>A (p.Pro1684=) rs753488932 0.00001
NM_015335.5(MED13L):c.5376A>G (p.Pro1792=) rs779527731 0.00001
NM_015335.5(MED13L):c.5409C>T (p.Ala1803=) rs756949902 0.00001
NM_015335.5(MED13L):c.546G>A (p.Glu182=) rs781132536 0.00001
NM_015335.5(MED13L):c.57C>A (p.Ser19=) rs1060504702 0.00001
NM_015335.5(MED13L):c.6318T>C (p.Ala2106=) rs1258835287 0.00001
NM_015335.5(MED13L):c.72+10C>T rs779448093 0.00001
NM_015335.5(MED13L):c.861C>A (p.Ile287=) rs61756230 0.00001
NM_015335.5(MED13L):c.879G>A (p.Pro293=) rs140586744 0.00001
NM_015335.5(MED13L):c.1009+20G>A
NM_015335.5(MED13L):c.1010-12C>T
NM_015335.5(MED13L):c.1010-17A>G
NM_015335.5(MED13L):c.1010-4dup rs771044608
NM_015335.5(MED13L):c.1010-6T>G
NM_015335.5(MED13L):c.1056A>G (p.Gln352=)
NM_015335.5(MED13L):c.1064G>A (p.Gly355Glu)
NM_015335.5(MED13L):c.1086A>G (p.Pro362=) rs2137415289
NM_015335.5(MED13L):c.1094C>T (p.Ser365Leu)
NM_015335.5(MED13L):c.1095G>T (p.Ser365=)
NM_015335.5(MED13L):c.1164A>G (p.Arg388=) rs1566011405
NM_015335.5(MED13L):c.1167C>G (p.Thr389=)
NM_015335.5(MED13L):c.1175+12C>T
NM_015335.5(MED13L):c.1176-9C>A
NM_015335.5(MED13L):c.1275T>C (p.Cys425=)
NM_015335.5(MED13L):c.1280+11A>G
NM_015335.5(MED13L):c.1281-17G>A
NM_015335.5(MED13L):c.1297C>T (p.Arg433Cys)
NM_015335.5(MED13L):c.129T>C (p.Cys43=)
NM_015335.5(MED13L):c.1307T>C (p.Val436Ala)
NM_015335.5(MED13L):c.1319G>A (p.Arg440Gln)
NM_015335.5(MED13L):c.1328C>T (p.Thr443Ile)
NM_015335.5(MED13L):c.1344G>A (p.Gly448=)
NM_015335.5(MED13L):c.1362A>G (p.Ser454=)
NM_015335.5(MED13L):c.1383T>G (p.Pro461=)
NM_015335.5(MED13L):c.1390TCT[1] (p.Ser465del)
NM_015335.5(MED13L):c.1394C>T (p.Ser465Phe)
NM_015335.5(MED13L):c.147C>A (p.Ala49=)
NM_015335.5(MED13L):c.1482C>T (p.Ala494=)
NM_015335.5(MED13L):c.1483G>A (p.Glu495Lys)
NM_015335.5(MED13L):c.1563C>T (p.Ser521=)
NM_015335.5(MED13L):c.1617A>C (p.Gln539His)
NM_015335.5(MED13L):c.1617A>G (p.Gln539=)
NM_015335.5(MED13L):c.1663C>T (p.Leu555=)
NM_015335.5(MED13L):c.1689A>T (p.Pro563=)
NM_015335.5(MED13L):c.1722A>G (p.Pro574=)
NM_015335.5(MED13L):c.1724C>T (p.Ser575Leu) rs377144746
NM_015335.5(MED13L):c.1728C>T (p.Val576=)
NM_015335.5(MED13L):c.1758A>T (p.Gly586=)
NM_015335.5(MED13L):c.1780A>G (p.Thr594Ala)
NM_015335.5(MED13L):c.1784T>C (p.Leu595Pro) rs750811062
NM_015335.5(MED13L):c.1785G>C (p.Leu595=) rs1592942104
NM_015335.5(MED13L):c.1797T>C (p.Thr599=)
NM_015335.5(MED13L):c.1847C>G (p.Ala616Gly)
NM_015335.5(MED13L):c.1871C>T (p.Ser624Leu)
NM_015335.5(MED13L):c.1884A>T (p.Ser628=)
NM_015335.5(MED13L):c.1914C>T (p.Leu638=) rs1279215396
NM_015335.5(MED13L):c.192G>C (p.Leu64=)
NM_015335.5(MED13L):c.1965A>G (p.Arg655=)
NM_015335.5(MED13L):c.1969G>A (p.Asp657Asn) rs760771799
NM_015335.5(MED13L):c.2012+12C>G
NM_015335.5(MED13L):c.2013-10_2013-9insTG rs1555247737
NM_015335.5(MED13L):c.2013-10_2013-9insTTG
NM_015335.5(MED13L):c.2013-9dup
NM_015335.5(MED13L):c.2016C>T (p.Leu672=)
NM_015335.5(MED13L):c.2022A>C (p.Ala674=)
NM_015335.5(MED13L):c.2036G>A (p.Arg679Gln) rs1366343903
NM_015335.5(MED13L):c.2097G>A (p.Leu699=)
NM_015335.5(MED13L):c.2109A>G (p.Gln703=)
NM_015335.5(MED13L):c.2175C>T (p.Tyr725=)
NM_015335.5(MED13L):c.2220T>G (p.Asp740Glu)
NM_015335.5(MED13L):c.2222C>G (p.Ser741Cys)
NM_015335.5(MED13L):c.2226G>C (p.Leu742=)
NM_015335.5(MED13L):c.2238+13A>T
NM_015335.5(MED13L):c.2238+13dup
NM_015335.5(MED13L):c.2239-3_2239-2del
NM_015335.5(MED13L):c.2260A>G (p.Lys754Glu)
NM_015335.5(MED13L):c.2268C>G (p.Val756=)
NM_015335.5(MED13L):c.230A>G (p.Lys77Arg)
NM_015335.5(MED13L):c.2320A>G (p.Ile774Val)
NM_015335.5(MED13L):c.2344+13A>G
NM_015335.5(MED13L):c.2345-4A>G
NM_015335.5(MED13L):c.2345-8T>G
NM_015335.5(MED13L):c.2352G>A (p.Arg784=) rs1226259653
NM_015335.5(MED13L):c.2352G>T (p.Arg784=) rs1226259653
NM_015335.5(MED13L):c.2418C>T (p.Ser806=)
NM_015335.5(MED13L):c.2452G>A (p.Asp818Asn)
NM_015335.5(MED13L):c.2466T>C (p.Leu822=)
NM_015335.5(MED13L):c.2469+11C>T
NM_015335.5(MED13L):c.2469+18A>G
NM_015335.5(MED13L):c.2469+20A>G
NM_015335.5(MED13L):c.2470-12G>A
NM_015335.5(MED13L):c.2472T>G (p.Ala824=)
NM_015335.5(MED13L):c.2485C>T (p.Leu829=)
NM_015335.5(MED13L):c.2489G>A (p.Arg830His)
NM_015335.5(MED13L):c.2523C>T (p.Asp841=)
NM_015335.5(MED13L):c.2553T>C (p.Ala851=)
NM_015335.5(MED13L):c.2569+11A>G
NM_015335.5(MED13L):c.2569+16T>A
NM_015335.5(MED13L):c.2570-14T>C
NM_015335.5(MED13L):c.2570-15A>T
NM_015335.5(MED13L):c.2570-8A>T
NM_015335.5(MED13L):c.2604A>G (p.Pro868=) rs772409015
NM_015335.5(MED13L):c.2621A>C (p.His874Pro)
NM_015335.5(MED13L):c.2648A>G (p.Tyr883Cys)
NM_015335.5(MED13L):c.270T>C (p.Asp90=)
NM_015335.5(MED13L):c.278A>G (p.Asn93Ser)
NM_015335.5(MED13L):c.2790+11A>G
NM_015335.5(MED13L):c.2790+12T>C
NM_015335.5(MED13L):c.2790+18A>G
NM_015335.5(MED13L):c.2826A>G (p.Gln942=)
NM_015335.5(MED13L):c.2832T>A (p.Phe944Leu) rs764385703
NM_015335.5(MED13L):c.2886A>C (p.Leu962=)
NM_015335.5(MED13L):c.2911C>T (p.Leu971=) rs2137328447
NM_015335.5(MED13L):c.2925A>G (p.Ser975=)
NM_015335.5(MED13L):c.2925A>T (p.Ser975=)
NM_015335.5(MED13L):c.2929G>A (p.Ala977Thr)
NM_015335.5(MED13L):c.2932A>G (p.Ile978Val)
NM_015335.5(MED13L):c.2959A>G (p.Met987Val)
NM_015335.5(MED13L):c.2996+7A>G
NM_015335.5(MED13L):c.3015G>C (p.Gly1005=)
NM_015335.5(MED13L):c.3018C>T (p.Ser1006=)
NM_015335.5(MED13L):c.3064G>A (p.Val1022Met)
NM_015335.5(MED13L):c.3078C>T (p.Ser1026=)
NM_015335.5(MED13L):c.3095A>G (p.Asn1032Ser)
NM_015335.5(MED13L):c.3108A>T (p.Gly1036=)
NM_015335.5(MED13L):c.311-10_311-4del
NM_015335.5(MED13L):c.311-20T>C
NM_015335.5(MED13L):c.311-21_311-16del
NM_015335.5(MED13L):c.311-21_311-17del
NM_015335.5(MED13L):c.311-4dup rs150398214
NM_015335.5(MED13L):c.3114A>G (p.Leu1038=)
NM_015335.5(MED13L):c.3123A>C (p.Pro1041=)
NM_015335.5(MED13L):c.3126A>C (p.Ala1042=)
NM_015335.5(MED13L):c.3165G>A (p.Arg1055=)
NM_015335.5(MED13L):c.3207A>G (p.Gln1069=)
NM_015335.5(MED13L):c.3213T>C (p.Ser1071=)
NM_015335.5(MED13L):c.3255C>T (p.Thr1085=)
NM_015335.5(MED13L):c.3258C>G (p.Pro1086=)
NM_015335.5(MED13L):c.3270G>T (p.Arg1090=)
NM_015335.5(MED13L):c.327C>T (p.Leu109=)
NM_015335.5(MED13L):c.3285G>A (p.Val1095=)
NM_015335.5(MED13L):c.3327C>T (p.Leu1109=)
NM_015335.5(MED13L):c.3329A>T (p.Tyr1110Phe)
NM_015335.5(MED13L):c.3336C>T (p.Thr1112=)
NM_015335.5(MED13L):c.3347C>A (p.Ser1116Tyr) rs1878063256
NM_015335.5(MED13L):c.3369T>C (p.Phe1123=)
NM_015335.5(MED13L):c.3396C>T (p.Cys1132=)
NM_015335.5(MED13L):c.3450C>A (p.Pro1150=)
NM_015335.5(MED13L):c.3498G>A (p.Ala1166=) rs200960898
NM_015335.5(MED13L):c.3522C>T (p.Tyr1174=)
NM_015335.5(MED13L):c.3595A>G (p.Arg1199Gly)
NM_015335.5(MED13L):c.359C>T (p.Thr120Met)
NM_015335.5(MED13L):c.3647A>G (p.Lys1216Arg)
NM_015335.5(MED13L):c.3682C>T (p.Leu1228Phe)
NM_015335.5(MED13L):c.3694C>A (p.Gln1232Lys)
NM_015335.5(MED13L):c.3711T>C (p.Phe1237=)
NM_015335.5(MED13L):c.3726C>T (p.Phe1242=) rs1422363356
NM_015335.5(MED13L):c.3734A>G (p.Tyr1245Cys) rs1878039306
NM_015335.5(MED13L):c.3741C>T (p.Ser1247=)
NM_015335.5(MED13L):c.3751C>T (p.Arg1251Cys)
NM_015335.5(MED13L):c.3783T>C (p.Tyr1261=)
NM_015335.5(MED13L):c.3789G>C (p.Arg1263=)
NM_015335.5(MED13L):c.3801T>A (p.Asp1267Glu)
NM_015335.5(MED13L):c.3802A>G (p.Asn1268Asp)
NM_015335.5(MED13L):c.3833C>T (p.Ala1278Val)
NM_015335.5(MED13L):c.3868A>G (p.Thr1290Ala)
NM_015335.5(MED13L):c.3882G>A (p.Val1294=)
NM_015335.5(MED13L):c.3885C>T (p.Asp1295=)
NM_015335.5(MED13L):c.3925C>T (p.His1309Tyr)
NM_015335.5(MED13L):c.3927C>T (p.His1309=)
NM_015335.5(MED13L):c.3929G>A (p.Ser1310Asn)
NM_015335.5(MED13L):c.3930C>T (p.Ser1310=)
NM_015335.5(MED13L):c.3934+10C>T
NM_015335.5(MED13L):c.3935-9C>A
NM_015335.5(MED13L):c.395+8A>G
NM_015335.5(MED13L):c.395+9A>G
NM_015335.5(MED13L):c.396-14T>C
NM_015335.5(MED13L):c.3960C>T (p.Ser1320=)
NM_015335.5(MED13L):c.4002C>G (p.Leu1334=) rs772069193
NM_015335.5(MED13L):c.4065A>G (p.Gly1355=)
NM_015335.5(MED13L):c.4068A>T (p.Pro1356=)
NM_015335.5(MED13L):c.4114+17G>A
NM_015335.5(MED13L):c.4114+8C>A
NM_015335.5(MED13L):c.4114+8C>G
NM_015335.5(MED13L):c.4115-18A>G
NM_015335.5(MED13L):c.4119G>A (p.Ser1373=)
NM_015335.5(MED13L):c.4144A>G (p.Ile1382Val)
NM_015335.5(MED13L):c.4158G>C (p.Leu1386=) rs2137287371
NM_015335.5(MED13L):c.4161A>G (p.Val1387=)
NM_015335.5(MED13L):c.4191G>A (p.Ser1397=)
NM_015335.5(MED13L):c.4206G>A (p.Pro1402=)
NM_015335.5(MED13L):c.4217G>A (p.Arg1406Lys)
NM_015335.5(MED13L):c.4223T>G (p.Leu1408Trp)
NM_015335.5(MED13L):c.4233A>G (p.Pro1411=)
NM_015335.5(MED13L):c.4293C>T (p.Leu1431=)
NM_015335.5(MED13L):c.4319A>G (p.Asp1440Gly)
NM_015335.5(MED13L):c.4330G>A (p.Val1444Ile)
NM_015335.5(MED13L):c.4339-20G>T
NM_015335.5(MED13L):c.4347G>A (p.Arg1449=)
NM_015335.5(MED13L):c.4382G>A (p.Arg1461His)
NM_015335.5(MED13L):c.4396C>G (p.Arg1466Gly)
NM_015335.5(MED13L):c.4405A>G (p.Lys1469Glu)
NM_015335.5(MED13L):c.4458G>A (p.Gln1486=)
NM_015335.5(MED13L):c.4461T>G (p.Pro1487=)
NM_015335.5(MED13L):c.4484A>G (p.Asn1495Ser)
NM_015335.5(MED13L):c.4509G>A (p.Ala1503=)
NM_015335.5(MED13L):c.4509G>T (p.Ala1503=)
NM_015335.5(MED13L):c.4519C>T (p.Arg1507Cys)
NM_015335.5(MED13L):c.4531+17T>C
NM_015335.5(MED13L):c.4532-20C>G
NM_015335.5(MED13L):c.4569A>G (p.Leu1523=)
NM_015335.5(MED13L):c.4570T>C (p.Leu1524=)
NM_015335.5(MED13L):c.4599A>G (p.Pro1533=)
NM_015335.5(MED13L):c.4625C>A (p.Pro1542Gln)
NM_015335.5(MED13L):c.4641C>T (p.Pro1547=)
NM_015335.5(MED13L):c.4699A>G (p.Asn1567Asp)
NM_015335.5(MED13L):c.4745C>T (p.Ser1582Phe)
NM_015335.5(MED13L):c.479+16G>A
NM_015335.5(MED13L):c.479+8T>C rs2137816605
NM_015335.5(MED13L):c.480-11C>G
NM_015335.5(MED13L):c.480-15T>C
NM_015335.5(MED13L):c.480-9C>G
NM_015335.5(MED13L):c.480-9C>T
NM_015335.5(MED13L):c.4831G>A (p.Val1611Ile)
NM_015335.5(MED13L):c.4854T>G (p.Thr1618=)
NM_015335.5(MED13L):c.4869G>A (p.Ala1623=)
NM_015335.5(MED13L):c.4875A>G (p.Arg1625=)
NM_015335.5(MED13L):c.4878G>A (p.Thr1626=)
NM_015335.5(MED13L):c.4881A>G (p.Gln1627=)
NM_015335.5(MED13L):c.4932G>C (p.Gln1644His)
NM_015335.5(MED13L):c.4949A>G (p.Gln1650Arg)
NM_015335.5(MED13L):c.4953G>A (p.Glu1651=)
NM_015335.5(MED13L):c.4955+13_4955+14insAAT
NM_015335.5(MED13L):c.4956-7dup
NM_015335.5(MED13L):c.4962A>G (p.Thr1654=)
NM_015335.5(MED13L):c.5052G>C (p.Pro1684=)
NM_015335.5(MED13L):c.511C>T (p.Leu171=)
NM_015335.5(MED13L):c.5121C>T (p.Tyr1707=)
NM_015335.5(MED13L):c.5134G>A (p.Asp1712Asn) rs1565992052
NM_015335.5(MED13L):c.5160T>C (p.Asn1720=) rs2137270716
NM_015335.5(MED13L):c.5175+11G>A
NM_015335.5(MED13L):c.5175+19A>G
NM_015335.5(MED13L):c.5176-8G>A
NM_015335.5(MED13L):c.5181G>C (p.Val1727=) rs2137265025
NM_015335.5(MED13L):c.5235A>G (p.Gln1745=)
NM_015335.5(MED13L):c.5253A>G (p.Ala1751=)
NM_015335.5(MED13L):c.5283A>G (p.Pro1761=) rs2137264574
NM_015335.5(MED13L):c.5284C>T (p.Leu1762=) rs200641273
NM_015335.5(MED13L):c.5295G>A (p.Gln1765=)
NM_015335.5(MED13L):c.5308T>C (p.Ser1770Pro)
NM_015335.5(MED13L):c.5313C>T (p.Leu1771=) rs1017360857
NM_015335.5(MED13L):c.5316G>A (p.Thr1772=) rs746426523
NM_015335.5(MED13L):c.5365-15T>G
NM_015335.5(MED13L):c.5365-16T>C
NM_015335.5(MED13L):c.5365-18T>C
NM_015335.5(MED13L):c.5365-20G>T
NM_015335.5(MED13L):c.5365C>T (p.Arg1789Trp)
NM_015335.5(MED13L):c.5451T>C (p.Gly1817=)
NM_015335.5(MED13L):c.5457G>A (p.Ala1819=)
NM_015335.5(MED13L):c.5466A>G (p.Lys1822=)
NM_015335.5(MED13L):c.5482G>T (p.Val1828Leu)
NM_015335.5(MED13L):c.5490T>C (p.Tyr1830=)
NM_015335.5(MED13L):c.5493T>C (p.Cys1831=)
NM_015335.5(MED13L):c.5540A>G (p.His1847Arg)
NM_015335.5(MED13L):c.5551T>C (p.Leu1851=)
NM_015335.5(MED13L):c.5559C>G (p.Thr1853=)
NM_015335.5(MED13L):c.5583A>G (p.Pro1861=)
NM_015335.5(MED13L):c.5589-15T>G
NM_015335.5(MED13L):c.5589-17A>G
NM_015335.5(MED13L):c.5589-18C>T
NM_015335.5(MED13L):c.5589-29TTCCCC[3]
NM_015335.5(MED13L):c.5589-9A>C
NM_015335.5(MED13L):c.5589-9A>G
NM_015335.5(MED13L):c.5594G>A (p.Arg1865Gln)
NM_015335.5(MED13L):c.5607A>T (p.Val1869=)
NM_015335.5(MED13L):c.5610T>C (p.Ser1870=)
NM_015335.5(MED13L):c.5658T>A (p.Ile1886=) rs1592904456
NM_015335.5(MED13L):c.5732-15G>A
NM_015335.5(MED13L):c.5732-18T>C
NM_015335.5(MED13L):c.5798G>A (p.Arg1933Gln)
NM_015335.5(MED13L):c.5802G>A (p.Met1934Ile) rs554093251
NM_015335.5(MED13L):c.5814T>C (p.Ser1938=)
NM_015335.5(MED13L):c.5817C>T (p.Ala1939=)
NM_015335.5(MED13L):c.5891-12T>C
NM_015335.5(MED13L):c.5891-16A>C
NM_015335.5(MED13L):c.5891-16A>G
NM_015335.5(MED13L):c.5891-8C>A
NM_015335.5(MED13L):c.5946A>G (p.Ser1982=)
NM_015335.5(MED13L):c.5985C>T (p.His1995=) rs1366083664
NM_015335.5(MED13L):c.6030C>T (p.Ala2010=)
NM_015335.5(MED13L):c.6037C>G (p.Pro2013Ala) rs1387712841
NM_015335.5(MED13L):c.603G>T (p.Gln201His) rs1880117720
NM_015335.5(MED13L):c.6057C>T (p.Ser2019=)
NM_015335.5(MED13L):c.6060C>T (p.Pro2020=)
NM_015335.5(MED13L):c.6067+16G>A
NM_015335.5(MED13L):c.6067+7A>T
NM_015335.5(MED13L):c.6068-13C>G
NM_015335.5(MED13L):c.6068-17T>C
NM_015335.5(MED13L):c.60C>T (p.Asn20=) rs746193221
NM_015335.5(MED13L):c.611C>T (p.Pro204Leu)
NM_015335.5(MED13L):c.6138C>T (p.Asn2046=)
NM_015335.5(MED13L):c.6189T>A (p.Ser2063=)
NM_015335.5(MED13L):c.6242T>A (p.Leu2081His)
NM_015335.5(MED13L):c.625+15T>G
NM_015335.5(MED13L):c.625+16C>G
NM_015335.5(MED13L):c.625+8T>G
NM_015335.5(MED13L):c.626-12T>C
NM_015335.5(MED13L):c.626-13C>T
NM_015335.5(MED13L):c.626-6C>T
NM_015335.5(MED13L):c.6279G>A (p.Gln2093=)
NM_015335.5(MED13L):c.6303A>G (p.Val2101=)
NM_015335.5(MED13L):c.6387+11_6387+12insCTTAAAGGTTG
NM_015335.5(MED13L):c.6387+20A>G
NM_015335.5(MED13L):c.6387+8del
NM_015335.5(MED13L):c.6388-13G>A
NM_015335.5(MED13L):c.6388-17C>T
NM_015335.5(MED13L):c.6388-20T>C
NM_015335.5(MED13L):c.6388-21CT[2]
NM_015335.5(MED13L):c.6388-4C>T
NM_015335.5(MED13L):c.641A>G (p.Tyr214Cys)
NM_015335.5(MED13L):c.6435G>T (p.Leu2145=)
NM_015335.5(MED13L):c.6465C>T (p.His2155=)
NM_015335.5(MED13L):c.6500+18C>T
NM_015335.5(MED13L):c.6501-18G>C
NM_015335.5(MED13L):c.6501-9C>G rs2137182384
NM_015335.5(MED13L):c.6540G>A (p.Thr2180=) rs371240974
NM_015335.5(MED13L):c.6582C>T (p.Val2194=)
NM_015335.5(MED13L):c.658C>T (p.Leu220=)
NM_015335.5(MED13L):c.663A>G (p.Thr221=)
NM_015335.5(MED13L):c.672A>G (p.Ala224=)
NM_015335.5(MED13L):c.70C>T (p.Leu24=)
NM_015335.5(MED13L):c.722A>G (p.Tyr241Cys) rs564830776
NM_015335.5(MED13L):c.73-19A>T
NM_015335.5(MED13L):c.732G>A (p.Pro244=)
NM_015335.5(MED13L):c.732G>C (p.Pro244=)
NM_015335.5(MED13L):c.760A>G (p.Lys254Glu)
NM_015335.5(MED13L):c.780A>G (p.Gly260=)
NM_015335.5(MED13L):c.789T>C (p.Asp263=)
NM_015335.5(MED13L):c.813A>G (p.Val271=)
NM_015335.5(MED13L):c.821-6T>C
NM_015335.5(MED13L):c.83C>T (p.Thr28Met)
NM_015335.5(MED13L):c.867G>C (p.Gln289His)
NM_015335.5(MED13L):c.911A>G (p.His304Arg)
NM_015335.5(MED13L):c.942T>C (p.Ser314=)
NM_015335.5(MED13L):c.979C>T (p.Pro327Ser)
NM_015335.5(MED13L):c.987C>G (p.Thr329=)

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