ClinVar Miner

List of variants in gene MED13L reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 306
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HGVS dbSNP gnomAD frequency
NM_015335.5(MED13L):c.2469+211T>C rs10774844 0.98349
NM_015335.5(MED13L):c.5731+54A>G rs1992069 0.92737
NM_015335.5(MED13L):c.5731+55T>A rs1992068 0.92734
NM_015335.5(MED13L):c.4114+249T>C rs2241768 0.45292
NM_015335.5(MED13L):c.5176-274G>A rs73196099 0.25457
NM_015335.5(MED13L):c.5365-330A>T rs56295994 0.21552
NM_015335.5(MED13L):c.2997-139A>C rs3741767 0.18946
NM_015335.5(MED13L):c.5364+182A>G rs12422761 0.18735
NM_015335.5(MED13L):c.73-179G>C rs17498914 0.16803
NM_015335.5(MED13L):c.3070T>C (p.Leu1024=) rs1865787 0.15121
NM_015335.5(MED13L):c.5928T>C (p.Thr1976=) rs2304460 0.14937
NM_015335.5(MED13L):c.6067+142T>A rs1344863 0.14928
NM_015335.5(MED13L):c.4956-40A>G rs56159580 0.14237
NM_015335.5(MED13L):c.2013-7C>T rs199749418 0.12825
NM_015335.5(MED13L):c.2013-9G>T rs200367922 0.10199
NM_015335.5(MED13L):c.1176-212A>C rs11067877 0.09655
NM_015335.5(MED13L):c.1280+138T>C rs3764954 0.09612
NM_015335.5(MED13L):c.6354C>T (p.Pro2118=) rs3088260 0.06405
NM_015335.5(MED13L):c.2570-334C>T rs147946489 0.04657
NM_015335.5(MED13L):c.579T>C (p.Asn193=) rs11067880 0.03424
NM_015335.5(MED13L):c.4956-71del rs57452298 0.01975
NM_015335.5(MED13L):c.395+60A>G rs17498473 0.01828
NM_015335.5(MED13L):c.4532-257C>G rs76168561 0.01532
NM_015335.5(MED13L):c.4955+139A>G rs71469744 0.01378
NM_015335.5(MED13L):c.625+41C>T rs114742297 0.01086
NM_015335.5(MED13L):c.6068-8C>T rs61936939 0.01078
NM_015335.5(MED13L):c.948G>A (p.Lys316=) rs61748072 0.01036
NM_015335.5(MED13L):c.73-147C>T rs7132417 0.00960
NM_015335.5(MED13L):c.1280+305T>G rs189380610 0.00864
NM_015335.5(MED13L):c.4744T>A (p.Ser1582Thr) rs150222863 0.00860
NM_015335.5(MED13L):c.3450C>T (p.Pro1150=) rs78561507 0.00853
NM_015335.5(MED13L):c.5955C>T (p.Leu1985=) rs113830913 0.00853
NM_015335.5(MED13L):c.5891-171A>G rs16946502 0.00656
NM_015335.5(MED13L):c.5365-292T>C rs78938873 0.00654
NM_015335.5(MED13L):c.1590C>T (p.Ala530=) rs114269768 0.00638
NM_015335.5(MED13L):c.2013-10T>G rs779894322 0.00634
NM_015335.5(MED13L):c.395+59G>A rs181624925 0.00614
NM_015335.5(MED13L):c.5890+77G>A rs76301952 0.00554
NM_015335.5(MED13L):c.1863T>C (p.Ile621=) rs61748071 0.00444
NM_015335.5(MED13L):c.479+35C>T rs186688405 0.00434
NM_015335.5(MED13L):c.3512A>G (p.Lys1171Arg) rs147863200 0.00377
NM_015335.5(MED13L):c.2239-16T>C rs147314859 0.00355
NM_015335.5(MED13L):c.*285T>C rs182172437 0.00330
NM_015335.5(MED13L):c.5891-284G>A rs531165588 0.00297
NM_015335.5(MED13L):c.1725G>A (p.Ser575=) rs77263223 0.00295
NM_015335.5(MED13L):c.1095G>A (p.Ser365=) rs144327790 0.00284
NM_015335.5(MED13L):c.1010-32A>G rs371607017 0.00262
NM_015335.5(MED13L):c.5891-42G>C rs141073828 0.00235
NM_015335.5(MED13L):c.1283A>G (p.His428Arg) rs144410580 0.00222
NM_015335.5(MED13L):c.4338+22T>C rs373430724 0.00205
NM_015335.5(MED13L):c.2570-107C>T rs771532250 0.00192
NM_015335.5(MED13L):c.1215T>G (p.Pro405=) rs147976467 0.00182
NM_015335.5(MED13L):c.4593C>T (p.Thr1531=) rs138774472 0.00172
NM_015335.5(MED13L):c.2013-2A>T rs745395440 0.00146
NM_015335.5(MED13L):c.1904G>A (p.Ser635Asn) rs144457722 0.00141
NM_015335.5(MED13L):c.4522C>T (p.His1508Tyr) rs75575870 0.00136
NM_015335.5(MED13L):c.2056A>C (p.Lys686Gln) rs139048741 0.00126
NM_015335.5(MED13L):c.6225+20C>T rs146803417 0.00116
NM_015335.5(MED13L):c.3330T>C (p.Tyr1110=) rs139711748 0.00114
NM_015335.5(MED13L):c.4467C>T (p.Ser1489=) rs141892892 0.00113
NM_015335.5(MED13L):c.5365-135A>G rs184714402 0.00113
NM_015335.5(MED13L):c.1008A>C (p.Leu336=) rs150782464 0.00084
NM_015335.5(MED13L):c.1010-14G>A rs368042803 0.00083
NM_015335.5(MED13L):c.5176-33G>T rs564990311 0.00069
NM_015335.5(MED13L):c.771C>T (p.Asp257=) rs148136300 0.00061
NM_015335.5(MED13L):c.2013-5T>C rs372464585 0.00059
NM_015335.5(MED13L):c.4956-50C>T rs367828106 0.00054
NM_015335.5(MED13L):c.1910G>A (p.Arg637His) rs146499452 0.00052
NM_015335.5(MED13L):c.40C>T (p.Leu14=) rs148454293 0.00048
NM_015335.5(MED13L):c.73-7T>C rs199550041 0.00048
NM_015335.5(MED13L):c.3758C>T (p.Thr1253Ile) rs148416895 0.00046
NM_015335.5(MED13L):c.5809A>C (p.Ile1937Leu) rs143602183 0.00045
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.2997-27C>T rs199823264 0.00037
NM_015335.5(MED13L):c.2703_2705dup (p.Pro901_Met902insIle) rs556713164 0.00035
NM_015335.5(MED13L):c.1877C>T (p.Pro626Leu) rs186297695 0.00034
NM_015335.5(MED13L):c.4532-49G>A rs371940656 0.00034
NM_015335.5(MED13L):c.4758G>A (p.Pro1586=) rs141818426 0.00034
NM_015335.5(MED13L):c.2239-7T>C rs144147395 0.00032
NM_015335.5(MED13L):c.4697C>T (p.Ser1566Leu) rs113890513 0.00032
NM_015335.5(MED13L):c.2012+48G>A rs201872286 0.00030
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.201C>T (p.Asn67=) rs144509091 0.00019
NM_015335.5(MED13L):c.4339-10A>G rs376463996 0.00019
NM_015335.5(MED13L):c.5664A>G (p.Gln1888=) rs143739741 0.00017
NM_015335.5(MED13L):c.2145A>G (p.Pro715=) rs565179910 0.00015
NM_015335.5(MED13L):c.2469+34C>T rs368021400 0.00015
NM_015335.5(MED13L):c.479+47G>A rs375359082 0.00015
NM_015335.5(MED13L):c.878C>T (p.Pro293Leu) rs537593859 0.00015
NM_015335.5(MED13L):c.1176-26A>G rs553710147 0.00014
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.*11A>G rs199672295 0.00010
NM_015335.5(MED13L):c.1447C>A (p.Pro483Thr) rs558160659 0.00010
NM_015335.5(MED13L):c.1970A>T (p.Asp657Val) rs775442091 0.00010
NM_015335.5(MED13L):c.656C>T (p.Thr219Met) rs191743300 0.00010
NM_015335.5(MED13L):c.2012+47G>C rs201563492 0.00009
NM_015335.5(MED13L):c.2013-45T>C rs774788667 0.00009
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.73-45G>C rs768244395 0.00008
NM_015335.5(MED13L):c.5562C>T (p.Cys1854=) rs139063441 0.00007
NM_015335.5(MED13L):c.3068C>T (p.Thr1023Met) rs747244814 0.00006
NM_015335.5(MED13L):c.6348G>A (p.Ser2116=) rs769874135 0.00006
NM_015335.5(MED13L):c.3934+3A>G rs747852225 0.00005
NM_015335.5(MED13L):c.573G>C (p.Leu191Phe) rs201690921 0.00005
NM_015335.5(MED13L):c.249A>G (p.Leu83=) rs138672862 0.00004
NM_015335.5(MED13L):c.3435C>T (p.Val1145=) rs568906108 0.00004
NM_015335.5(MED13L):c.4396C>T (p.Arg1466Cys) rs530432287 0.00004
NM_015335.5(MED13L):c.697C>T (p.Arg233Cys) rs766642871 0.00004
NM_015335.5(MED13L):c.1124A>G (p.His375Arg) rs376059806 0.00003
NM_015335.5(MED13L):c.2470-13C>T rs757038374 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.395+26G>A rs367910902 0.00003
NM_015335.5(MED13L):c.626-10C>A rs776407123 0.00003
NM_015335.5(MED13L):c.72+10C>T rs779448093 0.00003
NM_015335.5(MED13L):c.1280+44C>T rs373042571 0.00002
NM_015335.5(MED13L):c.1943C>G (p.Pro648Arg) rs1322326599 0.00002
NM_015335.5(MED13L):c.2351G>A (p.Arg784Gln) rs749407155 0.00002
NM_015335.5(MED13L):c.3069G>A (p.Thr1023=) rs780149328 0.00002
NM_015335.5(MED13L):c.5058G>A (p.Thr1686=) rs74757206 0.00002
NM_015335.5(MED13L):c.1175+5G>A rs567368642 0.00001
NM_015335.5(MED13L):c.1261G>A (p.Val421Ile) rs935188053 0.00001
NM_015335.5(MED13L):c.1601G>T (p.Arg534Ile) rs775387694 0.00001
NM_015335.5(MED13L):c.1717C>A (p.Pro573Thr) rs368307140 0.00001
NM_015335.5(MED13L):c.1859G>A (p.Gly620Glu) rs780566155 0.00001
NM_015335.5(MED13L):c.2704A>G (p.Met902Val) rs1468213991 0.00001
NM_015335.5(MED13L):c.2815C>G (p.Pro939Ala) rs1195996739 0.00001
NM_015335.5(MED13L):c.3134G>A (p.Arg1045His) rs1165240255 0.00001
NM_015335.5(MED13L):c.3155G>A (p.Arg1052Gln) rs977444793 0.00001
NM_015335.5(MED13L):c.3268C>T (p.Arg1090Trp) rs762410081 0.00001
NM_015335.5(MED13L):c.4468G>A (p.Gly1490Ser) rs749956782 0.00001
NM_015335.5(MED13L):c.4607C>T (p.Ala1536Val) rs527644823 0.00001
NM_015335.5(MED13L):c.4748C>G (p.Ser1583Cys) rs1181249892 0.00001
NM_015335.5(MED13L):c.4877C>T (p.Thr1626Met) rs911625539 0.00001
NM_015335.5(MED13L):c.4956-5T>A rs771118133 0.00001
NM_015335.5(MED13L):c.5462A>G (p.Gln1821Arg) rs1876884436 0.00001
NM_015335.5(MED13L):c.5510G>A (p.Arg1837His) rs565032784 0.00001
NM_015335.5(MED13L):c.731C>T (p.Pro244Leu) rs775015157 0.00001
NM_015335.5(MED13L):c.805G>A (p.Val269Ile) rs1879944991 0.00001
GRCh37/hg19 12q24.21(chr12:116497982-116534949)x1
GRCh38/hg38 12q24.21(chr12:116019418-116054358)x1
NM_015335.5(MED13L):c.1010-4dup rs771044608
NM_015335.5(MED13L):c.1169A>T (p.Gln390Leu)
NM_015335.5(MED13L):c.1186del (p.Met396fs) rs1064794013
NM_015335.5(MED13L):c.1195C>T (p.Pro399Ser) rs1879500574
NM_015335.5(MED13L):c.1226C>T (p.Pro409Leu)
NM_015335.5(MED13L):c.1280+1G>A
NM_015335.5(MED13L):c.1318C>T (p.Arg440Ter) rs1205283728
NM_015335.5(MED13L):c.1336C>T (p.Gln446Ter) rs886041503
NM_015335.5(MED13L):c.1448C>T (p.Pro483Leu) rs2137386182
NM_015335.5(MED13L):c.145G>A (p.Ala49Thr)
NM_015335.5(MED13L):c.1684C>T (p.Gln562Ter) rs2137385115
NM_015335.5(MED13L):c.1708_1709del (p.Ser570fs) rs869025286
NM_015335.5(MED13L):c.1724C>T (p.Ser575Leu) rs377144746
NM_015335.5(MED13L):c.1759C>G (p.Leu587Val)
NM_015335.5(MED13L):c.1773G>A (p.Gln591=) rs3741768
NM_015335.5(MED13L):c.1941_1948del (p.Pro648fs) rs1592941857
NM_015335.5(MED13L):c.1952T>G (p.Leu651Arg)
NM_015335.5(MED13L):c.1967G>A (p.Cys656Tyr)
NM_015335.5(MED13L):c.1992dup (p.Glu665fs) rs1057518424
NM_015335.5(MED13L):c.1994_1997del (p.Glu665fs) rs1555247800
NM_015335.5(MED13L):c.1A>G (p.Met1Val) rs1131691818
NM_015335.5(MED13L):c.2013-10del rs542425590
NM_015335.5(MED13L):c.2013-29_2013-21dup rs542425590
NM_015335.5(MED13L):c.2013-29_2013-22dup rs542425590
NM_015335.5(MED13L):c.2013-29_2013-27dup rs542425590
NM_015335.5(MED13L):c.2013-29_2013-28dup rs542425590
NM_015335.5(MED13L):c.2013-29dup rs542425590
NM_015335.5(MED13L):c.2183C>T (p.Thr728Ile)
NM_015335.5(MED13L):c.2281C>A (p.His761Asn)
NM_015335.5(MED13L):c.2333C>T (p.Ala778Val) rs1555247422
NM_015335.5(MED13L):c.2363C>T (p.Ala788Val) rs1299165203
NM_015335.5(MED13L):c.2470-5C>G rs1162894958
NM_015335.5(MED13L):c.2524C>T (p.Arg842Ter) rs1064793483
NM_015335.5(MED13L):c.2539G>A (p.Asp847Asn)
NM_015335.5(MED13L):c.2570-74T>A rs11067873
NM_015335.5(MED13L):c.2579A>G (p.Asp860Gly) rs1555246154
NM_015335.5(MED13L):c.2581T>G (p.Leu861Val)
NM_015335.5(MED13L):c.2590A>T (p.Met864Leu) rs886039599
NM_015335.5(MED13L):c.2597C>T (p.Pro866Leu) rs1555246145
NM_015335.5(MED13L):c.2605C>A (p.Pro869Thr) rs1057524103
NM_015335.5(MED13L):c.2633C>T (p.Ser878Phe) rs1064794939
NM_015335.5(MED13L):c.2636C>T (p.Pro879Leu) rs1064795068
NM_015335.5(MED13L):c.269A>G (p.Asp90Gly) rs2138459001
NM_015335.5(MED13L):c.26C>T (p.Ala9Val)
NM_015335.5(MED13L):c.2776C>A (p.Pro926Thr)
NM_015335.5(MED13L):c.2824C>G (p.Gln942Glu)
NM_015335.5(MED13L):c.2847G>A (p.Met949Ile)
NM_015335.5(MED13L):c.2908T>C (p.Cys970Arg)
NM_015335.5(MED13L):c.2911_2914del (p.Leu971fs) rs1064796611
NM_015335.5(MED13L):c.2920C>T (p.Pro974Ser) rs2137328362
NM_015335.5(MED13L):c.2930C>T (p.Ala977Val) rs1131691671
NM_015335.5(MED13L):c.2944A>T (p.Ile982Phe) rs2137328252
NM_015335.5(MED13L):c.2950C>A (p.Gln984Lys)
NM_015335.5(MED13L):c.2997-159dup rs879503143
NM_015335.5(MED13L):c.2997-2A>G rs1198136487
NM_015335.5(MED13L):c.3090_3093del (p.Ser1031fs) rs1555245254
NM_015335.5(MED13L):c.3173G>A (p.Arg1058Lys)
NM_015335.5(MED13L):c.3269G>T (p.Arg1090Leu)
NM_015335.5(MED13L):c.3428C>T (p.Ala1143Val) rs763939921
NM_015335.5(MED13L):c.3451G>A (p.Asp1151Asn)
NM_015335.5(MED13L):c.3469C>T (p.Gln1157Ter) rs1555245108
NM_015335.5(MED13L):c.34del (p.Ala12fs) rs1593238375
NM_015335.5(MED13L):c.3596G>A (p.Arg1199Lys)
NM_015335.5(MED13L):c.3765del (p.Cys1256fs) rs147976828
NM_015335.5(MED13L):c.3833C>T (p.Ala1278Val)
NM_015335.5(MED13L):c.3895G>A (p.Val1299Met)
NM_015335.5(MED13L):c.3913C>T (p.His1305Tyr) rs1231044656
NM_015335.5(MED13L):c.3920G>C (p.Trp1307Ser)
NM_015335.5(MED13L):c.3938T>G (p.Leu1313Arg) rs759773785
NM_015335.5(MED13L):c.3986C>T (p.Ser1329Phe)
NM_015335.5(MED13L):c.401dup (p.Met135fs) rs1593039493
NM_015335.5(MED13L):c.4033A>G (p.Arg1345Gly) rs2137290173
NM_015335.5(MED13L):c.4051C>T (p.Gln1351Ter) rs1057524341
NM_015335.5(MED13L):c.4060C>T (p.Gln1354Ter) rs1565995054
NM_015335.5(MED13L):c.4076G>A (p.Trp1359Ter) rs1592919048
NM_015335.5(MED13L):c.4190C>T (p.Ser1397Leu) rs2137287209
NM_015335.5(MED13L):c.4230C>A (p.Asp1410Glu) rs2137287044
NM_015335.5(MED13L):c.4235A>G (p.Tyr1412Cys) rs1190857852
NM_015335.5(MED13L):c.4259A>G (p.Tyr1420Cys) rs2137286817
NM_015335.5(MED13L):c.4298G>A (p.Gly1433Glu) rs2137286575
NM_015335.5(MED13L):c.4342T>G (p.Cys1448Gly)
NM_015335.5(MED13L):c.4387G>A (p.Gly1463Arg) rs1555243607
NM_015335.5(MED13L):c.43G>T (p.Glu15Ter) rs1057520775
NM_015335.5(MED13L):c.4403dup (p.Thr1470fs) rs1131691764
NM_015335.5(MED13L):c.4412_4413del (p.Val1471fs) rs1592915896
NM_015335.5(MED13L):c.442C>T (p.Arg148Ter) rs1872666696
NM_015335.5(MED13L):c.4456C>T (p.Gln1486Ter) rs1555243580
NM_015335.5(MED13L):c.4532-13T>G
NM_015335.5(MED13L):c.4577del (p.Pro1526fs) rs1057518262
NM_015335.5(MED13L):c.4609C>T (p.Gln1537Ter) rs1555243400
NM_015335.5(MED13L):c.4700A>G (p.Asn1567Ser)
NM_015335.5(MED13L):c.4716del (p.Pro1573fs) rs1064796113
NM_015335.5(MED13L):c.4720GCA[1] (p.Ala1575del)
NM_015335.5(MED13L):c.4955G>A (p.Ser1652Asn) rs2137273654
NM_015335.5(MED13L):c.5057C>T (p.Thr1686Met) rs1877397719
NM_015335.5(MED13L):c.5083dup (p.Ser1695fs) rs1555243086
NM_015335.5(MED13L):c.5084C>A (p.Ser1695Tyr) rs775457796
NM_015335.5(MED13L):c.5175+21T>A rs145094432
NM_015335.5(MED13L):c.5175G>T (p.Gln1725His) rs1555243051
NM_015335.5(MED13L):c.5234A>G (p.Gln1745Arg)
NM_015335.5(MED13L):c.5278C>T (p.Arg1760Ter) rs886041448
NM_015335.5(MED13L):c.5288C>A (p.Pro1763His) rs747112698
NM_015335.5(MED13L):c.5315C>T (p.Thr1772Met) rs2137264380
NM_015335.5(MED13L):c.5365-22T>A rs374679380
NM_015335.5(MED13L):c.5365-22T>C rs374679380
NM_015335.5(MED13L):c.53A>T (p.His18Leu)
NM_015335.5(MED13L):c.5459_5460delinsTA (p.Ser1820Ile) rs2137243699
NM_015335.5(MED13L):c.5470A>G (p.Asn1824Asp)
NM_015335.5(MED13L):c.5471del (p.Asn1824fs)
NM_015335.5(MED13L):c.5531C>G (p.Thr1844Ser)
NM_015335.5(MED13L):c.553C>T (p.Gln185Ter) rs2137446910
NM_015335.5(MED13L):c.5589-1G>A rs1064796543
NM_015335.5(MED13L):c.5603A>C (p.Lys1868Thr)
NM_015335.5(MED13L):c.5615G>C (p.Arg1872Pro)
NM_015335.5(MED13L):c.5687T>A (p.Val1896Asp)
NM_015335.5(MED13L):c.5695G>A (p.Gly1899Arg) rs2137241977
NM_015335.5(MED13L):c.5698C>T (p.Arg1900Ter) rs1876853109
NM_015335.5(MED13L):c.5710C>G (p.Leu1904Val)
NM_015335.5(MED13L):c.5719G>T (p.Gly1907Trp)
NM_015335.5(MED13L):c.5785A>G (p.Lys1929Glu) rs1064795586
NM_015335.5(MED13L):c.5796_5806del (p.Cys1932fs) rs1876629983
NM_015335.5(MED13L):c.5798G>T (p.Arg1933Leu)
NM_015335.5(MED13L):c.5802G>A (p.Met1934Ile) rs554093251
NM_015335.5(MED13L):c.5866C>T (p.Gln1956Ter) rs1565985681
NM_015335.5(MED13L):c.5951A>G (p.Gln1984Arg) rs2137223630
NM_015335.5(MED13L):c.5953C>G (p.Leu1985Val) rs2137223609
NM_015335.5(MED13L):c.6010A>G (p.Thr2004Ala)
NM_015335.5(MED13L):c.6067+5G>A
NM_015335.5(MED13L):c.6073dup (p.Met2025fs) rs1131691386
NM_015335.5(MED13L):c.6139C>G (p.Leu2047Val)
NM_015335.5(MED13L):c.6228C>A (p.Ser2076Arg) rs2137203328
NM_015335.5(MED13L):c.626-27A>C rs11611238
NM_015335.5(MED13L):c.6280C>T (p.Pro2094Ser)
NM_015335.5(MED13L):c.6284dup (p.Ala2096fs) rs886041624
NM_015335.5(MED13L):c.6310G>T (p.Ala2104Ser) rs1019178380
NM_015335.5(MED13L):c.6368A>G (p.Gln2123Arg)
NM_015335.5(MED13L):c.6392C>T (p.Ser2131Leu)
NM_015335.5(MED13L):c.6418C>T (p.Gln2140Ter) rs1555239936
NM_015335.5(MED13L):c.6461dup (p.His2155fs) rs1592890905
NM_015335.5(MED13L):c.6485C>T (p.Thr2162Met) rs869312707
NM_015335.5(MED13L):c.6509T>G (p.Leu2170Trp)
NM_015335.5(MED13L):c.652G>A (p.Gly218Arg)
NM_015335.5(MED13L):c.6539C>T (p.Thr2180Met) rs1875744082
NM_015335.5(MED13L):c.6554C>A (p.Thr2185Asn)
NM_015335.5(MED13L):c.6556C>T (p.Gln2186Ter) rs1555239555
NM_015335.5(MED13L):c.6592G>C (p.Val2198Leu)
NM_015335.5(MED13L):c.72+27G>C rs751073934
NM_015335.5(MED13L):c.72+41dup rs377558672
NM_015335.5(MED13L):c.72+42G>C rs765021303
NM_015335.5(MED13L):c.73-10_73-9dup rs765651929
NM_015335.5(MED13L):c.735G>T (p.Met245Ile)
NM_015335.5(MED13L):c.769G>A (p.Asp257Asn)
NM_015335.5(MED13L):c.785A>G (p.Asp262Gly)
NM_015335.5(MED13L):c.79C>T (p.Leu27Phe)
NM_015335.5(MED13L):c.878del (p.Pro293fs) rs1555249561
NM_015335.5(MED13L):c.88A>G (p.Ile30Val) rs2138459773
NM_015335.5(MED13L):c.896C>G (p.Ala299Gly)
NM_015335.5(MED13L):c.941G>T (p.Ser314Ile)
NM_015335.5(MED13L):c.971C>T (p.Pro324Leu)

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