ClinVar Miner

List of variants in gene MEF2C

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Gene type:
ClinVar version:
Total variants: 529
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HGVS dbSNP gnomAD frequency
NM_002397.5(MEF2C):c.403-139A>G rs2247885 0.48112
NM_002397.5(MEF2C):c.-142-333_-142-332insAG rs10689049 0.42870
NM_001131005.2(MEF2C):c.-239-236T>C rs17560407 0.18327
NM_002397.5(MEF2C):c.590-95G>T rs10514303 0.05491
NM_002397.5(MEF2C):c.810+199T>A rs45563631 0.05047
NM_002397.5(MEF2C):c.810+268C>T rs72771875 0.02706
NM_002397.5(MEF2C):c.258+155T>G rs3850650 0.02169
NM_002397.5(MEF2C):c.811-290T>C rs73773730 0.01934
NM_002397.5(MEF2C):c.589+57A>C rs3729703 0.01312
NM_002397.5(MEF2C):c.1101-254C>T rs144445046 0.00448
NM_002397.5(MEF2C):c.1100+111T>C rs45596931 0.00426
NM_002397.5(MEF2C):c.1100+145T>C rs3729669 0.00369
NM_002397.5(MEF2C):c.54+173A>G rs73179423 0.00358
NM_002397.5(MEF2C):c.811-13C>T rs201988423 0.00113
NM_002397.5(MEF2C):c.834+15C>T rs140447603 0.00097
NM_002397.5(MEF2C):c.-209T>C rs564254573 0.00065
NM_002397.5(MEF2C):c.811-12G>A rs149706617 0.00064
NM_002397.5(MEF2C):c.402+16A>G rs373582392 0.00050
NM_002397.5(MEF2C):c.964+23A>G rs3729668 0.00031
NM_001131005.2(MEF2C):c.-143+6T>C rs749992711 0.00027
NM_002397.5(MEF2C):c.*16C>G rs200087574 0.00023
NM_002397.5(MEF2C):c.27G>A (p.Thr9=) rs540349899 0.00021
NM_002397.5(MEF2C):c.-42T>C rs371238107 0.00019
NM_002397.5(MEF2C):c.*3046G>A rs563346285 0.00018
NM_002397.5(MEF2C):c.402+46T>C rs763680701 0.00018
NM_002397.5(MEF2C):c.402+104C>T rs569860731 0.00014
NM_002397.5(MEF2C):c.642C>T (p.Asn214=) rs79455305 0.00011
NM_002397.5(MEF2C):c.1207A>G (p.Thr403Ala) rs753002290 0.00010
NM_002397.5(MEF2C):c.180C>T (p.Thr60=) rs773278207 0.00010
NM_002397.5(MEF2C):c.258+7G>C rs372739987 0.00010
NM_002397.5(MEF2C):c.54+13A>T rs374788140 0.00009
NM_002397.5(MEF2C):c.363C>T (p.Asn121=) rs186648089 0.00008
NM_002397.5(MEF2C):c.780A>G (p.Pro260=) rs776117674 0.00008
NM_002397.5(MEF2C):c.309G>A (p.Ala103=) rs567797470 0.00006
NM_002397.5(MEF2C):c.759A>G (p.Pro253=) rs368575766 0.00006
NM_002397.5(MEF2C):c.980G>C (p.Ser327Thr) rs796052726 0.00005
NM_002397.5(MEF2C):c.111G>A (p.Val37=) rs759783899 0.00004
NM_002397.5(MEF2C):c.1332C>T (p.His444=) rs376439815 0.00004
NM_002397.5(MEF2C):c.252C>T (p.Ile84=) rs780952466 0.00004
NM_002397.5(MEF2C):c.258+10C>T rs563149132 0.00004
NM_002397.5(MEF2C):c.312C>T (p.Asp104=) rs587781034 0.00004
NM_002397.5(MEF2C):c.34A>G (p.Met12Val) rs965091526 0.00004
NM_002397.5(MEF2C):c.402+71G>A rs369779113 0.00004
NM_002397.5(MEF2C):c.480T>C (p.Pro160=) rs200518765 0.00004
NM_002397.5(MEF2C):c.609C>T (p.Asp203=) rs997965581 0.00004
NM_002397.5(MEF2C):c.871T>C (p.Leu291=) rs747980554 0.00004
NM_002397.5(MEF2C):c.-1T>C rs1199121348 0.00003
NM_002397.5(MEF2C):c.1299G>C (p.Gly433=) rs771241026 0.00003
NM_002397.5(MEF2C):c.225G>A (p.Pro75=) rs779924552 0.00003
NM_002397.5(MEF2C):c.397T>C (p.Leu133=) rs1345329569 0.00003
NM_002397.5(MEF2C):c.402+208A>G rs764312143 0.00003
NM_002397.5(MEF2C):c.637+19C>G rs371668591 0.00003
NM_002397.5(MEF2C):c.810+14A>G rs376014780 0.00003
NM_002397.5(MEF2C):c.1020C>T (p.Ser340=) rs756799434 0.00002
NM_002397.5(MEF2C):c.1100+3A>G rs779821248 0.00002
NM_002397.5(MEF2C):c.402+152A>G rs774007350 0.00002
NM_002397.5(MEF2C):c.489A>G (p.Ser163=) rs781632867 0.00002
NM_002397.5(MEF2C):c.615G>A (p.Thr205=) rs776496777 0.00002
NM_002397.5(MEF2C):c.639G>C (p.Gly213=) rs757188352 0.00002
NM_002397.5(MEF2C):c.810+10A>T rs587783748 0.00002
NM_002397.5(MEF2C):c.822C>T (p.Val274=) rs1282449699 0.00002
NM_002397.5(MEF2C):c.834+16G>A rs760064638 0.00002
NM_002397.5(MEF2C):c.994T>C (p.Ser332Pro) rs200887424 0.00002
NM_002397.5(MEF2C):c.*3045C>T rs886060855 0.00001
NM_002397.5(MEF2C):c.1005G>C (p.Gly335=) rs1053127005 0.00001
NM_002397.5(MEF2C):c.1014C>T (p.Thr338=) rs1404943567 0.00001
NM_002397.5(MEF2C):c.1015G>A (p.Ala339Thr) rs778783316 0.00001
NM_002397.5(MEF2C):c.1021G>A (p.Ala341Thr) rs797045703 0.00001
NM_002397.5(MEF2C):c.1041A>C (p.Val347=) rs1426509656 0.00001
NM_002397.5(MEF2C):c.1053A>G (p.Gln351=) rs970307256 0.00001
NM_002397.5(MEF2C):c.1086C>A (p.Ala362=) rs1057521169 0.00001
NM_002397.5(MEF2C):c.1218G>A (p.Ser406=) rs759655835 0.00001
NM_002397.5(MEF2C):c.1290G>C (p.Ser430=) rs745534524 0.00001
NM_002397.5(MEF2C):c.1296C>T (p.Asp432=) rs756839313 0.00001
NM_002397.5(MEF2C):c.132G>A (p.Ala44=) rs776920242 0.00001
NM_002397.5(MEF2C):c.1340T>C (p.Ile447Thr) rs753156153 0.00001
NM_002397.5(MEF2C):c.1416A>G (p.Ala472=) rs1353760829 0.00001
NM_002397.5(MEF2C):c.210G>A (p.Thr70=) rs1250050314 0.00001
NM_002397.5(MEF2C):c.219C>T (p.Asn73=) rs768621677 0.00001
NM_002397.5(MEF2C):c.237G>A (p.Arg79=) rs1799619981 0.00001
NM_002397.5(MEF2C):c.258+14C>T rs779827174 0.00001
NM_002397.5(MEF2C):c.261G>A (p.Thr87=) rs777529202 0.00001
NM_002397.5(MEF2C):c.300C>T (p.Asp100=) rs1561876666 0.00001
NM_002397.5(MEF2C):c.308C>T (p.Ala103Val) rs755436703 0.00001
NM_002397.5(MEF2C):c.319G>A (p.Val107Ile) rs750647048 0.00001
NM_002397.5(MEF2C):c.402+18C>T rs759365719 0.00001
NM_002397.5(MEF2C):c.402+75G>T rs997329230 0.00001
NM_002397.5(MEF2C):c.423C>T (p.Phe141=) rs774945849 0.00001
NM_002397.5(MEF2C):c.440T>G (p.Ile147Ser) rs1366038563 0.00001
NM_002397.5(MEF2C):c.447G>C (p.Val149=) rs1554112223 0.00001
NM_002397.5(MEF2C):c.450C>T (p.Ser150=) rs1380809389 0.00001
NM_002397.5(MEF2C):c.465G>A (p.Leu155=) rs1256206599 0.00001
NM_002397.5(MEF2C):c.499C>T (p.Pro167Ser) rs1322552264 0.00001
NM_002397.5(MEF2C):c.531G>A (p.Leu177=) rs371858773 0.00001
NM_002397.5(MEF2C):c.54+16T>A rs953851573 0.00001
NM_002397.5(MEF2C):c.544A>G (p.Met182Val) rs1250885583 0.00001
NM_002397.5(MEF2C):c.55-9T>G rs1328901581 0.00001
NM_002397.5(MEF2C):c.585C>T (p.Asn195=) rs398123686 0.00001
NM_002397.5(MEF2C):c.589+19G>A rs1460049267 0.00001
NM_002397.5(MEF2C):c.645G>T (p.Gly215=) rs1406989584 0.00001
NM_002397.5(MEF2C):c.686C>T (p.Pro229Leu) rs1761808498 0.00001
NM_002397.5(MEF2C):c.730A>G (p.Met244Val) rs752349182 0.00001
NM_002397.5(MEF2C):c.798G>A (p.Thr266=) rs761222463 0.00001
NM_002397.5(MEF2C):c.860C>T (p.Ser287Leu) rs777826971 0.00001
NM_002397.5(MEF2C):c.861G>A (p.Ser287=) rs185655344 0.00001
NM_002397.5(MEF2C):c.887T>C (p.Val296Ala) rs765881880 0.00001
NM_002397.5(MEF2C):c.936A>G (p.Pro312=) rs763339882 0.00001
NM_002397.5(MEF2C):c.963C>T (p.Thr321=) rs1363064582 0.00001
GRCh37/hg19 5q14.3(chr5:87999726-88137439)x1
GRCh37/hg19 5q14.3(chr5:88018116-88183698)x1
GRCh37/hg19 5q14.3(chr5:88041931-88078617)x1
GRCh37/hg19 5q14.3(chr5:88054762-88271992)x1
GRCh37/hg19 5q14.3(chr5:88056500-88183698)x1
GRCh37/hg19 5q14.3(chr5:88062122-88111344)x3
GRCh37/hg19 5q14.3(chr5:88065061-88406446)
GRCh37/hg19 5q14.3(chr5:88079010-88297500)x3
GRCh37/hg19 5q14.3(chr5:88097312-88197506)x3
GRCh37/hg19 5q14.3(chr5:88103597-88226422)x3
GRCh37/hg19 5q14.3(chr5:88105838-88119403)x1
GRCh37/hg19 5q14.3(chr5:88119552-88119605)x1
GRCh37/hg19 5q14.3(chr5:88122457-88197779)x3
GRCh37/hg19 5q14.3(chr5:88162245-88177599)x1
GRCh37/hg19 5q14.3(chr5:88169558-88176878)x1
GRCh37/hg19 5q14.3(chr5:88193159-88218797)x3
GRCh37/hg19 5q14.3(chr5:88193901-88218797)x3
GRCh37/hg19 5q14.3(chr5:88193901-88223420)x4
GRCh37/hg19 5q14.3(chr5:88196003-88199586)x3
GRCh37/hg19 5q14.3(chr5:88196003-88218797)x3
GRCh37/hg19 5q14.3(chr5:88196003-88223420)x4
GRCh37/hg19 5q14.3(chr5:88197506-88218797)x4
GRCh37/hg19 5q14.3(chr5:88197595-88226422)x4
GRCh38/hg38 5q14.3(chr5:88766676-88808855)x1
NC_000005.10:g.(?_88722584)_(88823808_?)del
NC_000005.10:g.(?_88804588)_(88884466_?)del
NC_000005.10:g.88731902del
NC_000005.9:g.(?_88027526)_(88027738_?)del
NC_000005.9:g.(?_88047654)_(88047880_?)del
NC_000005.9:g.(?_88056982)_(88119605_?)del
NC_000005.9:g.(?_88100395)_(88100638_?)del
NC_000005.9:g.(?_88100395)_(88119605_?)del
NM_001131005.2(MEF2C):c.805-887_805-884del rs1760863025
NM_002397.4(MEF2C):c.-450_-449dup rs144197632
NM_002397.4(MEF2C):c.-450delC rs144197632
NM_002397.4(MEF2C):c.-450dup rs144197632
NM_002397.4(MEF2C):c.-510_-497delTCTTCCTCCTCCTC rs1085307051
NM_002397.4(MEF2C):c.-523_-511TCTTCCTCCTCCT[1] rs1164925540
NM_002397.4(MEF2C):c.-548_-546CTC[5]
NM_002397.4(MEF2C):c.-548_-546CTC[6] rs567979916
NM_002397.4(MEF2C):c.-548_-546CTC[8] rs567979916
NM_002397.4(MEF2C):c.-548_-546CTC[9] rs567979916
NM_002397.4:c.(?_-1)_(*1_?)del
NM_002397.5(MEF2C):c.*115del rs553216678
NM_002397.5(MEF2C):c.*2266_*2267dup rs3841444
NM_002397.5(MEF2C):c.*2267del rs3841444
NM_002397.5(MEF2C):c.*2267dup rs3841444
NM_002397.5(MEF2C):c.*2877_*2878dup rs886060856
NM_002397.5(MEF2C):c.*31_*32del rs56660854
NM_002397.5(MEF2C):c.*32del rs56660854
NM_002397.5(MEF2C):c.*3387A>T rs886060854
NM_002397.5(MEF2C):c.*51_*55del rs886060862
NM_002397.5(MEF2C):c.-142-25787T>G rs2153377579
NM_002397.5(MEF2C):c.-143+11C>T rs1554055657
NM_002397.5(MEF2C):c.-143+17T>A rs1267825119
NM_002397.5(MEF2C):c.-143+89A>G rs10044342
NM_002397.5(MEF2C):c.-207C>T rs200560914
NM_002397.5(MEF2C):c.-207CT[7] rs879560669
NM_002397.5(MEF2C):c.-208del rs886060864
NM_002397.5(MEF2C):c.-208dup rs886060864
NM_002397.5(MEF2C):c.-26C>T rs758320958
NM_002397.5(MEF2C):c.-43A>T rs978491338
NM_002397.5(MEF2C):c.-66A>T rs1350600010
NM_002397.5(MEF2C):c.-8C>T rs2153222958
NM_002397.5(MEF2C):c.-91_-89del rs747852567
NM_002397.5(MEF2C):c.1002T>C (p.Ser334=) rs2152208828
NM_002397.5(MEF2C):c.1005G>T (p.Gly335=)
NM_002397.5(MEF2C):c.100G>T (p.Glu34Ter) rs1057520584
NM_002397.5(MEF2C):c.1011C>T (p.Asn337=)
NM_002397.5(MEF2C):c.1017C>T (p.Ala339=) rs1581323265
NM_002397.5(MEF2C):c.1029C>G (p.His343Gln) rs796052727
NM_002397.5(MEF2C):c.1030C>T (p.Leu344Phe) rs980341351
NM_002397.5(MEF2C):c.1037C>T (p.Ser346Leu)
NM_002397.5(MEF2C):c.1038A>T (p.Ser346=)
NM_002397.5(MEF2C):c.104T>C (p.Leu35Pro) rs2153074771
NM_002397.5(MEF2C):c.104T>G (p.Leu35Arg) rs2153074771
NM_002397.5(MEF2C):c.1056G>A (p.Gln352=)
NM_002397.5(MEF2C):c.105G>A (p.Leu35=)
NM_002397.5(MEF2C):c.106A>C (p.Ser36Arg)
NM_002397.5(MEF2C):c.106A>G (p.Ser36Gly) rs2153074738
NM_002397.5(MEF2C):c.1072A>G (p.Met358Val)
NM_002397.5(MEF2C):c.1075C>A (p.Pro359Thr)
NM_002397.5(MEF2C):c.1084G>T (p.Ala362Ser) rs1481007836
NM_002397.5(MEF2C):c.1087C>T (p.Leu363Phe) rs2152207244
NM_002397.5(MEF2C):c.108C>T (p.Ser36=) rs143129901
NM_002397.5(MEF2C):c.1095G>C (p.Gln365His) rs1581321362
NM_002397.5(MEF2C):c.109G>A (p.Val37Met)
NM_002397.5(MEF2C):c.1100+17T>C
NM_002397.5(MEF2C):c.1100+18T>C
NM_002397.5(MEF2C):c.1100+6C>G rs1759908843
NM_002397.5(MEF2C):c.1101-20G>A
NM_002397.5(MEF2C):c.1101-3C>T
NM_002397.5(MEF2C):c.110T>C (p.Val37Ala) rs1799677960
NM_002397.5(MEF2C):c.1119T>C (p.His373=) rs2152046393
NM_002397.5(MEF2C):c.1128G>C (p.Gln376His) rs1756837959
NM_002397.5(MEF2C):c.1135A>C (p.Asn379His)
NM_002397.5(MEF2C):c.1138C>A (p.Leu380Ile)
NM_002397.5(MEF2C):c.1139T>A (p.Leu380His)
NM_002397.5(MEF2C):c.113T>A (p.Leu38Gln) rs397514655
NM_002397.5(MEF2C):c.113T>C (p.Leu38Pro) rs397514655
NM_002397.5(MEF2C):c.115T>C (p.Cys39Arg) rs796052729
NM_002397.5(MEF2C):c.119A>G (p.Asp40Gly) rs2153074606
NM_002397.5(MEF2C):c.1201C>T (p.Arg401Cys) rs1064797057
NM_002397.5(MEF2C):c.1202G>A (p.Arg401His) rs2152045243
NM_002397.5(MEF2C):c.1203T>C (p.Arg401=) rs34381004
NM_002397.5(MEF2C):c.1207A>T (p.Thr403Ser)
NM_002397.5(MEF2C):c.120_125dup (p.Asp40_Cys41dup) rs796052732
NM_002397.5(MEF2C):c.1211C>A (p.Thr404Asn) rs1756812909
NM_002397.5(MEF2C):c.1218G>T (p.Ser406=) rs759655835
NM_002397.5(MEF2C):c.121T>C (p.Cys41Arg) rs794727493
NM_002397.5(MEF2C):c.1226C>A (p.Pro409Gln)
NM_002397.5(MEF2C):c.1233C>T (p.His411=)
NM_002397.5(MEF2C):c.1235C>T (p.Thr412Met)
NM_002397.5(MEF2C):c.1236G>A (p.Thr412=)
NM_002397.5(MEF2C):c.1239C>A (p.Arg413=)
NM_002397.5(MEF2C):c.123_124del (p.Cys41_Glu42delinsTer) rs1554139771
NM_002397.5(MEF2C):c.1247C>T (p.Ala416Val) rs768570497
NM_002397.5(MEF2C):c.1258C>T (p.Pro420Ser)
NM_002397.5(MEF2C):c.126G>C (p.Glu42Asp) rs2153074530
NM_002397.5(MEF2C):c.128T>G (p.Ile43Ser)
NM_002397.5(MEF2C):c.1293C>G (p.Tyr431Ter) rs780925017
NM_002397.5(MEF2C):c.1298_1303dup (p.Gly433_Ser434dup) rs1272732104
NM_002397.5(MEF2C):c.1299G>A (p.Gly433=) rs771241026
NM_002397.5(MEF2C):c.129T>C (p.Ile43=) rs1323101986
NM_002397.5(MEF2C):c.1301G>A (p.Ser434Asn)
NM_002397.5(MEF2C):c.1302C>T (p.Ser434=)
NM_002397.5(MEF2C):c.1306C>A (p.Arg436=)
NM_002397.5(MEF2C):c.1319G>A (p.Arg440Gln) rs1360994640
NM_002397.5(MEF2C):c.131C>A (p.Ala44Glu)
NM_002397.5(MEF2C):c.131C>T (p.Ala44Val) rs1799664202
NM_002397.5(MEF2C):c.1331A>C (p.His444Pro) rs1554098567
NM_002397.5(MEF2C):c.1337C>G (p.Pro446Arg) rs2152042647
NM_002397.5(MEF2C):c.1337C>T (p.Pro446Leu)
NM_002397.5(MEF2C):c.1339A>G (p.Ile447Val) rs1756753374
NM_002397.5(MEF2C):c.1341T>C (p.Ile447=)
NM_002397.5(MEF2C):c.134T>C (p.Leu45Pro)
NM_002397.5(MEF2C):c.1353A>G (p.Arg451=)
NM_002397.5(MEF2C):c.1354C>A (p.Pro452Thr)
NM_002397.5(MEF2C):c.1359G>T (p.Ser453=) rs1224709005
NM_002397.5(MEF2C):c.1360C>A (p.Pro454Thr)
NM_002397.5(MEF2C):c.1366G>T (p.Glu456Ter)
NM_002397.5(MEF2C):c.1368A>C (p.Glu456Asp)
NM_002397.5(MEF2C):c.1375A>G (p.Ser459Gly) rs1554098520
NM_002397.5(MEF2C):c.1377T>C (p.Ser459=) rs2152041593
NM_002397.5(MEF2C):c.137T>A (p.Ile46Asn) rs1799660837
NM_002397.5(MEF2C):c.1380C>T (p.Pro460=) rs1244083930
NM_002397.5(MEF2C):c.1382C>A (p.Ser461Ter) rs2152041454
NM_002397.5(MEF2C):c.1383A>T (p.Ser461=) rs2152041410
NM_002397.5(MEF2C):c.1385T>C (p.Val462Ala) rs1194300256
NM_002397.5(MEF2C):c.1392C>T (p.Arg464=) rs1554098511
NM_002397.5(MEF2C):c.1396C>A (p.Arg466=)
NM_002397.5(MEF2C):c.1398A>G (p.Arg466=) rs2152041098
NM_002397.5(MEF2C):c.13_14del (p.Lys5fs) rs1554150590
NM_002397.5(MEF2C):c.1401T>G (p.Leu467=) rs1291920482
NM_002397.5(MEF2C):c.1403C>T (p.Ser468Phe) rs607159
NM_002397.5(MEF2C):c.1412G>A (p.Trp471Ter)
NM_002397.5(MEF2C):c.1413G>A (p.Trp471Ter)
NM_002397.5(MEF2C):c.1415C>A (p.Ala472Glu) rs1561641773
NM_002397.5(MEF2C):c.1420T>A (p.Ter474Arg) rs1227804681
NM_002397.5(MEF2C):c.14del (p.Lys5fs) rs1554150590
NM_002397.5(MEF2C):c.152C>T (p.Thr51Ile) rs1057519001
NM_002397.5(MEF2C):c.15G>T (p.Lys5Asn)
NM_002397.5(MEF2C):c.160C>T (p.Leu54=)
NM_002397.5(MEF2C):c.168G>A (p.Gln56=)
NM_002397.5(MEF2C):c.168G>C (p.Gln56His) rs2153074335
NM_002397.5(MEF2C):c.170A>G (p.Tyr57Cys) rs2153074319
NM_002397.5(MEF2C):c.177C>G (p.Ser59Arg) rs1554139743
NM_002397.5(MEF2C):c.17T>A (p.Ile6Asn) rs2153222922
NM_002397.5(MEF2C):c.17T>G (p.Ile6Ser)
NM_002397.5(MEF2C):c.192dup (p.Val65fs) rs1580988138
NM_002397.5(MEF2C):c.194T>C (p.Val65Ala) rs1580988074
NM_002397.5(MEF2C):c.194T>G (p.Val65Gly) rs1580988074
NM_002397.5(MEF2C):c.195G>T (p.Val65=) rs1186763422
NM_002397.5(MEF2C):c.196C>G (p.Leu66Val) rs1799641525
NM_002397.5(MEF2C):c.19C>T (p.Gln7Ter)
NM_002397.5(MEF2C):c.1A>G (p.Met1Val) rs1432291994
NM_002397.5(MEF2C):c.204G>A (p.Lys68=) rs1580987960
NM_002397.5(MEF2C):c.204_208del (p.Lys68fs)
NM_002397.5(MEF2C):c.206A>T (p.Tyr69Phe) rs2153074116
NM_002397.5(MEF2C):c.210delinsTAC (p.Glu71fs)
NM_002397.5(MEF2C):c.214del (p.Tyr72fs) rs1554139723
NM_002397.5(MEF2C):c.216C>G (p.Tyr72Ter)
NM_002397.5(MEF2C):c.21G>T (p.Gln7His) rs1554150584
NM_002397.5(MEF2C):c.220G>T (p.Glu74Ter) rs2153074000
NM_002397.5(MEF2C):c.225G>T (p.Pro75=) rs779924552
NM_002397.5(MEF2C):c.227A>G (p.His76Arg)
NM_002397.5(MEF2C):c.22A>C (p.Ile8Leu)
NM_002397.5(MEF2C):c.235C>A (p.Arg79=) rs1021588454
NM_002397.5(MEF2C):c.236G>C (p.Arg79Pro) rs1554139693
NM_002397.5(MEF2C):c.241A>G (p.Asn81Asp)
NM_002397.5(MEF2C):c.243C>T (p.Asn81=)
NM_002397.5(MEF2C):c.249C>T (p.Asp83=)
NM_002397.5(MEF2C):c.258+13_258+14delinsAT rs2153073599
NM_002397.5(MEF2C):c.258+1G>A rs1064797310
NM_002397.5(MEF2C):c.258+1G>T rs1064797310
NM_002397.5(MEF2C):c.258+20G>A
NM_002397.5(MEF2C):c.258+2T>C
NM_002397.5(MEF2C):c.258+2T>G rs1554139674
NM_002397.5(MEF2C):c.258+3G>A
NM_002397.5(MEF2C):c.258+5G>C rs2153073717
NM_002397.5(MEF2C):c.258G>A (p.Glu86=) rs796052724
NM_002397.5(MEF2C):c.259-16A>T
NM_002397.5(MEF2C):c.259-17C>T
NM_002397.5(MEF2C):c.259-19T>C
NM_002397.5(MEF2C):c.259-1G>A rs2152674810
NM_002397.5(MEF2C):c.261G>T (p.Thr87=) rs777529202
NM_002397.5(MEF2C):c.26C>T (p.Thr9Met) rs2153222916
NM_002397.5(MEF2C):c.280A>G (p.Asn94Asp) rs1777743502
NM_002397.5(MEF2C):c.2T>C (p.Met1Thr) rs545185248
NM_002397.5(MEF2C):c.301C>A (p.Pro101Thr)
NM_002397.5(MEF2C):c.303C>G (p.Pro101=)
NM_002397.5(MEF2C):c.304G>C (p.Asp102His) rs2152674244
NM_002397.5(MEF2C):c.306T>C (p.Asp102=)
NM_002397.5(MEF2C):c.30G>A (p.Arg10=) rs2153222913
NM_002397.5(MEF2C):c.312C>A (p.Asp104Glu)
NM_002397.5(MEF2C):c.315T>G (p.Asp105Glu)
NM_002397.5(MEF2C):c.318C>T (p.Ser106=) rs760986750
NM_002397.5(MEF2C):c.320T>C (p.Val107Ala)
NM_002397.5(MEF2C):c.345C>G (p.Asp115Glu)
NM_002397.5(MEF2C):c.346A>G (p.Lys116Glu) rs1777713411
NM_002397.5(MEF2C):c.352A>C (p.Arg118=)
NM_002397.5(MEF2C):c.375T>G (p.Asp125Glu) rs2152673396
NM_002397.5(MEF2C):c.387C>G (p.Ser129Arg) rs2152673311
NM_002397.5(MEF2C):c.399G>T (p.Leu133Phe) rs2152673081
NM_002397.5(MEF2C):c.3G>C (p.Met1Ile) rs1554150607
NM_002397.5(MEF2C):c.401_402+2del rs1561875779
NM_002397.5(MEF2C):c.402+106A>G
NM_002397.5(MEF2C):c.402+145A>G rs1777617806
NM_002397.5(MEF2C):c.402+146C>A rs1358670337
NM_002397.5(MEF2C):c.402+147A>G rs1580252051
NM_002397.5(MEF2C):c.402+153dup rs796052736
NM_002397.5(MEF2C):c.402+163A>G
NM_002397.5(MEF2C):c.402+184del rs2152669802
NM_002397.5(MEF2C):c.402+19del
NM_002397.5(MEF2C):c.402+1G>A
NM_002397.5(MEF2C):c.402+8C>T rs1777690728
NM_002397.5(MEF2C):c.402+9T>G rs2152672913
NM_002397.5(MEF2C):c.403-14T>G
NM_002397.5(MEF2C):c.403-1G>A
NM_002397.5(MEF2C):c.403-1G>T rs1561824498
NM_002397.5(MEF2C):c.403-211A>G rs647983
NM_002397.5(MEF2C):c.403-8T>A rs1581754208
NM_002397.5(MEF2C):c.40G>A (p.Glu14Lys)
NM_002397.5(MEF2C):c.411del (p.Pro138fs) rs1581753788
NM_002397.5(MEF2C):c.413C>A (p.Pro138His)
NM_002397.5(MEF2C):c.413del (p.Pro138fs) rs1581753587
NM_002397.5(MEF2C):c.415C>T (p.Pro139Ser) rs2152525975
NM_002397.5(MEF2C):c.430C>A (p.Pro144Thr)
NM_002397.5(MEF2C):c.439A>G (p.Ile147Val)
NM_002397.5(MEF2C):c.43C>G (p.Arg15Gly)
NM_002397.5(MEF2C):c.43C>T (p.Arg15Cys) rs796052728
NM_002397.5(MEF2C):c.446T>C (p.Val149Ala) rs1057349061
NM_002397.5(MEF2C):c.44G>A (p.Arg15His) rs1202957297
NM_002397.5(MEF2C):c.44G>C (p.Arg15Pro) rs1202957297
NM_002397.5(MEF2C):c.454_465delinsTGACA (p.His152_Leu155delinsTer) rs2152525511
NM_002397.5(MEF2C):c.456C>T (p.His152=) rs1554112204
NM_002397.5(MEF2C):c.458del (p.Asn153fs) rs730882192
NM_002397.5(MEF2C):c.45dup (p.Asn16Ter) rs1554150552
NM_002397.5(MEF2C):c.461G>T (p.Ser154Ile)
NM_002397.5(MEF2C):c.463T>C (p.Leu155=) rs927377195
NM_002397.5(MEF2C):c.468del (p.Tyr157fs)
NM_002397.5(MEF2C):c.471C>T (p.Tyr157=)
NM_002397.5(MEF2C):c.478C>T (p.Pro160Ser) rs1772995609
NM_002397.5(MEF2C):c.490C>T (p.Leu164=) rs1390261667
NM_002397.5(MEF2C):c.511C>T (p.Pro171Ser)
NM_002397.5(MEF2C):c.514C>T (p.Leu172=) rs1772969049
NM_002397.5(MEF2C):c.517G>A (p.Ala173Thr)
NM_002397.5(MEF2C):c.51A>G (p.Arg17=)
NM_002397.5(MEF2C):c.51_54del (p.Arg17_Gln18insTer) rs1554150543
NM_002397.5(MEF2C):c.522C>T (p.His174=)
NM_002397.5(MEF2C):c.524C>T (p.Pro175Leu) rs2152524882
NM_002397.5(MEF2C):c.527C>A (p.Ser176Tyr) rs1057521189
NM_002397.5(MEF2C):c.532C>T (p.Gln178Ter) rs1772953161
NM_002397.5(MEF2C):c.534G>A (p.Gln178=)
NM_002397.5(MEF2C):c.539A>G (p.Asn180Ser)
NM_002397.5(MEF2C):c.53A>G (p.Gln18Arg)
NM_002397.5(MEF2C):c.54+11T>C
NM_002397.5(MEF2C):c.54+12A>C
NM_002397.5(MEF2C):c.54+13A>G
NM_002397.5(MEF2C):c.54+5G>A
NM_002397.5(MEF2C):c.54+6T>C
NM_002397.5(MEF2C):c.54+8G>T rs2153222799
NM_002397.5(MEF2C):c.541A>G (p.Ser181Gly)
NM_002397.5(MEF2C):c.55-14T>C
NM_002397.5(MEF2C):c.55-45G>A rs185608147
NM_002397.5(MEF2C):c.553G>A (p.Gly185Ser)
NM_002397.5(MEF2C):c.557T>C (p.Val186Ala) rs1561821810
NM_002397.5(MEF2C):c.559dup (p.Thr187fs) rs2152524628
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter) rs587783747
NM_002397.5(MEF2C):c.566G>A (p.Arg189Gln)
NM_002397.5(MEF2C):c.566_567dup (p.Pro190fs) rs1554112069
NM_002397.5(MEF2C):c.570T>A (p.Pro190=)
NM_002397.5(MEF2C):c.576T>A (p.Ser192Arg) rs1772929062
NM_002397.5(MEF2C):c.579A>G (p.Ala193=)
NM_002397.5(MEF2C):c.583A>G (p.Asn195Asp)
NM_002397.5(MEF2C):c.589+16G>T
NM_002397.5(MEF2C):c.589+6T>A rs1370610061
NM_002397.5(MEF2C):c.589+8del
NM_002397.5(MEF2C):c.589G>C (p.Gly197Arg) rs1310323196
NM_002397.5(MEF2C):c.58A>G (p.Thr20Ala) rs1554139870
NM_002397.5(MEF2C):c.58A>T (p.Thr20Ser) rs1554139870
NM_002397.5(MEF2C):c.590-15C>G
NM_002397.5(MEF2C):c.590-4A>G
NM_002397.5(MEF2C):c.592G>A (p.Gly198Ser) rs1029856807
NM_002397.5(MEF2C):c.595C>G (p.Leu199Val)
NM_002397.5(MEF2C):c.595C>T (p.Leu199=) rs1472815211
NM_002397.5(MEF2C):c.59C>T (p.Thr20Ile) rs2153075088
NM_002397.5(MEF2C):c.611T>G (p.Leu204Arg) rs2152497517
NM_002397.5(MEF2C):c.612C>G (p.Leu204=) rs1771367792
NM_002397.5(MEF2C):c.614C>T (p.Thr205Met)
NM_002397.5(MEF2C):c.614_626delinsGTCTCCAC (p.Thr205fs) rs1554110298
NM_002397.5(MEF2C):c.626_627insTCTCCAC (p.Thr210fs) rs2152497336
NM_002397.5(MEF2C):c.637+1G>C rs2152497250
NM_002397.5(MEF2C):c.637+1G>T
NM_002397.5(MEF2C):c.637+2T>C rs1064793730
NM_002397.5(MEF2C):c.637+9A>G rs1581701842
NM_002397.5(MEF2C):c.638-11T>C
NM_002397.5(MEF2C):c.638-14T>C
NM_002397.5(MEF2C):c.638-14dup rs754587449
NM_002397.5(MEF2C):c.638-15G>A
NM_002397.5(MEF2C):c.638-1G>A rs2152281284
NM_002397.5(MEF2C):c.638-2A>C rs1554102556
NM_002397.5(MEF2C):c.638-2A>G rs1554102556
NM_002397.5(MEF2C):c.638-7T>C
NM_002397.5(MEF2C):c.638-9del
NM_002397.5(MEF2C):c.645G>A (p.Gly215=) rs1406989584
NM_002397.5(MEF2C):c.64_77del (p.Thr22fs)
NM_002397.5(MEF2C):c.651C>A (p.Gly217=) rs929360766
NM_002397.5(MEF2C):c.655C>A (p.Pro219Thr)
NM_002397.5(MEF2C):c.656C>T (p.Pro219Leu) rs1761821562
NM_002397.5(MEF2C):c.657C>T (p.Pro219=) rs1477294607
NM_002397.5(MEF2C):c.658C>T (p.Arg220Ter) rs1761818173
NM_002397.5(MEF2C):c.65C>G (p.Thr22Arg) rs1580990072
NM_002397.5(MEF2C):c.664T>C (p.Ser222Pro)
NM_002397.5(MEF2C):c.66A>G (p.Thr22=) rs2153075042
NM_002397.5(MEF2C):c.683C>G (p.Ser228Ter) rs267607233
NM_002397.5(MEF2C):c.685C>A (p.Pro229Thr)
NM_002397.5(MEF2C):c.685C>T (p.Pro229Ser)
NM_002397.5(MEF2C):c.68A>G (p.Lys23Arg) rs797045053
NM_002397.5(MEF2C):c.690T>C (p.Gly230=) rs1168200349
NM_002397.5(MEF2C):c.694T>G (p.Leu232Val) rs2152280607
NM_002397.5(MEF2C):c.699C>T (p.Asn233=) rs2152280530
NM_002397.5(MEF2C):c.709C>T (p.Gln237Ter) rs1561698356
NM_002397.5(MEF2C):c.71G>A (p.Arg24Lys) rs869312698
NM_002397.5(MEF2C):c.724C>G (p.Pro242Ala)
NM_002397.5(MEF2C):c.728del (p.Pro243fs) rs1581392920
NM_002397.5(MEF2C):c.729A>G (p.Pro243=)
NM_002397.5(MEF2C):c.72G>A (p.Arg24=) rs1057522729
NM_002397.5(MEF2C):c.746A>G (p.Asn249Ser)
NM_002397.5(MEF2C):c.750C>T (p.Asn250=)
NM_002397.5(MEF2C):c.751C>T (p.Arg251Cys) rs1761787183
NM_002397.5(MEF2C):c.752G>A (p.Arg251His) rs1761785681
NM_002397.5(MEF2C):c.766C>T (p.Arg256Ter) rs796052733
NM_002397.5(MEF2C):c.767G>A (p.Arg256Gln) rs1761775496
NM_002397.5(MEF2C):c.768A>G (p.Arg256=) rs2152279899
NM_002397.5(MEF2C):c.769G>C (p.Val257Leu)
NM_002397.5(MEF2C):c.773T>A (p.Leu258His) rs1268731100
NM_002397.5(MEF2C):c.775A>G (p.Ile259Val)
NM_002397.5(MEF2C):c.780dup (p.Pro261fs) rs1561697465
NM_002397.5(MEF2C):c.781C>T (p.Pro261Ser)
NM_002397.5(MEF2C):c.788G>T (p.Ser263Ile) rs2152279598
NM_002397.5(MEF2C):c.799A>G (p.Met267Val) rs1761753278
NM_002397.5(MEF2C):c.79G>A (p.Gly27Arg)
NM_002397.5(MEF2C):c.800T>C (p.Met267Thr) rs1561697163
NM_002397.5(MEF2C):c.80G>C (p.Gly27Ala) rs397514656
NM_002397.5(MEF2C):c.810+13T>G
NM_002397.5(MEF2C):c.810+191dup rs11439565
NM_002397.5(MEF2C):c.810+1G>A rs1761749684
NM_002397.5(MEF2C):c.810+2T>C
NM_002397.5(MEF2C):c.811-14C>T
NM_002397.5(MEF2C):c.811-17C>T
NM_002397.5(MEF2C):c.811-267del rs370988334
NM_002397.5(MEF2C):c.811-5C>G rs1760866808
NM_002397.5(MEF2C):c.811-9T>G rs1057521717
NM_002397.5(MEF2C):c.823G>C (p.Asp275His)
NM_002397.5(MEF2C):c.826C>G (p.Leu276Val) rs2152250513
NM_002397.5(MEF2C):c.82T>G (p.Leu28Val)
NM_002397.5(MEF2C):c.833del (p.Leu277_Leu278insTer) rs587783749
NM_002397.5(MEF2C):c.834+13A>G
NM_002397.5(MEF2C):c.834+182del rs34297769
NM_002397.5(MEF2C):c.835-10_835-7del rs1291357632
NM_002397.5(MEF2C):c.835-20C>A
NM_002397.5(MEF2C):c.835-2A>G
NM_002397.5(MEF2C):c.855C>T (p.Ser285=)
NM_002397.5(MEF2C):c.860C>A (p.Ser287Ter) rs777826971
NM_002397.5(MEF2C):c.864T>C (p.Ala288=) rs2152224964
NM_002397.5(MEF2C):c.881del (p.Pro294fs)
NM_002397.5(MEF2C):c.88AAG[1] (p.Lys31del)
NM_002397.5(MEF2C):c.891C>T (p.Ser297=) rs755665375
NM_002397.5(MEF2C):c.892G>A (p.Val298Ile)
NM_002397.5(MEF2C):c.896C>T (p.Ala299Val)
NM_002397.5(MEF2C):c.89A>C (p.Lys30Thr)
NM_002397.5(MEF2C):c.900T>A (p.Thr300=)
NM_002397.5(MEF2C):c.908T>G (p.Leu303Ter)
NM_002397.5(MEF2C):c.908del (p.Leu303fs)
NM_002397.5(MEF2C):c.908dup (p.Leu303fs) rs1581338441
NM_002397.5(MEF2C):c.919G>C (p.Gly307Arg)
NM_002397.5(MEF2C):c.91A>G (p.Lys31Glu)
NM_002397.5(MEF2C):c.926dup (p.Gly310fs) rs786200981
NM_002397.5(MEF2C):c.939_940del (p.Ala314fs)
NM_002397.5(MEF2C):c.93G>T (p.Lys31Asn) rs1057518382
NM_002397.5(MEF2C):c.940G>T (p.Ala314Ser)
NM_002397.5(MEF2C):c.941C>G (p.Ala314Gly) rs1064796969
NM_002397.5(MEF2C):c.964G>A (p.Glu322Lys) rs2152223232
NM_002397.5(MEF2C):c.965-10T>G
NM_002397.5(MEF2C):c.965-11C>A rs1043608782
NM_002397.5(MEF2C):c.965-11C>T rs1043608782
NM_002397.5(MEF2C):c.965-15T>C rs2152209795
NM_002397.5(MEF2C):c.965-19_965-17del
NM_002397.5(MEF2C):c.965-2A>G rs1759968705
NM_002397.5(MEF2C):c.965-6A>C rs2152209415
NM_002397.5(MEF2C):c.965-6_965-2del rs1064795146
NM_002397.5(MEF2C):c.967T>A (p.Tyr323Asn)
NM_002397.5(MEF2C):c.988C>T (p.Leu330=)
NM_002397.5(MEF2C):c.988del (p.Leu330fs) rs1759964009
NM_002397.5(MEF2C):c.990G>T (p.Leu330=)
NM_002397.5(MEF2C):c.992C>T (p.Ser331Leu)
NM_002397.5(MEF2C):c.999_1000del (p.Ser334fs)
NM_002397.5(MEF2C):c.99T>C (p.Tyr33=)
NM_002397.5(MEF2C):c.99dup (p.Glu34Ter) rs2153074822
NM_002397.5(MEF2C):c.9A>T (p.Arg3Ser) rs876661308

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