ClinVar Miner

List of variants studied for 5q14.3 microdeletion syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 361
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HGVS dbSNP gnomAD frequency
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.811-12G>A rs149706617 0.00064
NM_002397.5(MEF2C):c.402+16A>G rs373582392 0.00050
NM_002397.5(MEF2C):c.27G>A (p.Thr9=) rs540349899 0.00021
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.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.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.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.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.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.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.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.308C>T (p.Ala103Val) rs755436703 0.00001
NM_002397.5(MEF2C):c.319G>A (p.Val107Ile) rs750647048 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.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(chr5:88065061-88406446)
GRCh38/hg38 5q14.3-15(chr5:88189536-93784597)x1
NC_000005.10:g.(?_88722584)_(88823808_?)del
NC_000005.10:g.(?_88804588)_(88884466_?)del
NC_000005.10:g.88731902del
NC_000005.10:g.88846693_89051376delinsG
NC_000005.9:g.(?_87776690)_(88119605_?)del
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
NC_000005.9:g.(?_88625195)_(90796047_?)inv
NM_002397.4:c.(?_-1)_(*1_?)del
NM_002397.5(MEF2C):c.-142-25787T>G rs2153377579
NM_002397.5(MEF2C):c.-26C>T rs758320958
NM_002397.5(MEF2C):c.-66A>T rs1350600010
NM_002397.5(MEF2C):c.-8C>T rs2153222958
NM_002397.5(MEF2C):c.1002T>C (p.Ser334=) rs2152208828
NM_002397.5(MEF2C):c.1005G>T (p.Gly335=)
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.1072A>G (p.Met358Val)
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.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.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.119A>G (p.Asp40Gly) rs2153074606
NM_002397.5(MEF2C):c.1203T>C (p.Arg401=) rs34381004
NM_002397.5(MEF2C):c.1207A>T (p.Thr403Ser)
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.1233C>T (p.His411=)
NM_002397.5(MEF2C):c.1236G>A (p.Thr412=)
NM_002397.5(MEF2C):c.1239C>A (p.Arg413=)
NM_002397.5(MEF2C):c.1247C>T (p.Ala416Val) rs768570497
NM_002397.5(MEF2C):c.1258C>T (p.Pro420Ser)
NM_002397.5(MEF2C):c.128T>G (p.Ile43Ser)
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.1301G>A (p.Ser434Asn)
NM_002397.5(MEF2C):c.1302C>T (p.Ser434=)
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.1366G>T (p.Glu456Ter)
NM_002397.5(MEF2C):c.1368A>C (p.Glu456Asp)
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.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.1396C>A (p.Arg466=)
NM_002397.5(MEF2C):c.1398A>G (p.Arg466=) rs2152041098
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.168G>A (p.Gln56=)
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.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.1A>G (p.Met1Val) rs1432291994
NM_002397.5(MEF2C):c.204G>A (p.Lys68=) rs1580987960
NM_002397.5(MEF2C):c.206A>T (p.Tyr69Phe) rs2153074116
NM_002397.5(MEF2C):c.210delinsTAC (p.Glu71fs)
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.22A>C (p.Ile8Leu)
NM_002397.5(MEF2C):c.235C>A (p.Arg79=) rs1021588454
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+20G>A
NM_002397.5(MEF2C):c.258+2T>C
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.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.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.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+145A>G rs1777617806
NM_002397.5(MEF2C):c.402+146C>A rs1358670337
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.403-8T>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.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.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.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.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.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.589G>C (p.Gly197Arg) rs1310323196
NM_002397.5(MEF2C):c.58A>G (p.Thr20Ala) 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+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.638-7T>C
NM_002397.5(MEF2C):c.638-9del
NM_002397.5(MEF2C):c.645G>A (p.Gly215=) rs1406989584
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.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.71G>A (p.Arg24Lys) rs869312698
NM_002397.5(MEF2C):c.724C>G (p.Pro242Ala)
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.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.788G>T (p.Ser263Ile) rs2152279598
NM_002397.5(MEF2C):c.79G>A (p.Gly27Arg)
NM_002397.5(MEF2C):c.80G>C (p.Gly27Ala) rs397514656
NM_002397.5(MEF2C):c.810+13T>G
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.811-5C>G rs1760866808
NM_002397.5(MEF2C):c.823G>C (p.Asp275His)
NM_002397.5(MEF2C):c.833del (p.Leu277_Leu278insTer) rs587783749
NM_002397.5(MEF2C):c.834+13A>G
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.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.89A>C (p.Lys30Thr)
NM_002397.5(MEF2C):c.900T>A (p.Thr300=)
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.939_940del (p.Ala314fs)
NM_002397.5(MEF2C):c.940G>T (p.Ala314Ser)
NM_002397.5(MEF2C):c.965-10T>G
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.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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