ClinVar Miner

List of variants reported as likely benign for 5q14.3 microdeletion syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 157
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HGVS dbSNP gnomAD frequency
NM_002397.5(MEF2C):c.27G>A (p.Thr9=) rs540349899 0.00021
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.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.312C>T (p.Asp104=) rs587781034 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.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.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.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.423C>T (p.Phe141=) rs774945849 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.531G>A (p.Leu177=) rs371858773 0.00001
NM_002397.5(MEF2C):c.54+16T>A rs953851573 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.798G>A (p.Thr266=) rs761222463 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.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.1030C>T (p.Leu344Phe) rs980341351
NM_002397.5(MEF2C):c.1038A>T (p.Ser346=)
NM_002397.5(MEF2C):c.1056G>A (p.Gln352=)
NM_002397.5(MEF2C):c.105G>A (p.Leu35=)
NM_002397.5(MEF2C):c.108C>T (p.Ser36=) rs143129901
NM_002397.5(MEF2C):c.1100+17T>C
NM_002397.5(MEF2C):c.1100+18T>C
NM_002397.5(MEF2C):c.1101-20G>A
NM_002397.5(MEF2C):c.1119T>C (p.His373=) rs2152046393
NM_002397.5(MEF2C):c.1203T>C (p.Arg401=) rs34381004
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.1299G>A (p.Gly433=) rs771241026
NM_002397.5(MEF2C):c.1302C>T (p.Ser434=)
NM_002397.5(MEF2C):c.1341T>C (p.Ile447=)
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.1377T>C (p.Ser459=) rs2152041593
NM_002397.5(MEF2C):c.1383A>T (p.Ser461=) rs2152041410
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.168G>A (p.Gln56=)
NM_002397.5(MEF2C):c.194T>C (p.Val65Ala) rs1580988074
NM_002397.5(MEF2C):c.195G>T (p.Val65=) rs1186763422
NM_002397.5(MEF2C):c.204G>A (p.Lys68=) rs1580987960
NM_002397.5(MEF2C):c.225G>T (p.Pro75=) rs779924552
NM_002397.5(MEF2C):c.235C>A (p.Arg79=) rs1021588454
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.259-16A>T
NM_002397.5(MEF2C):c.259-17C>T
NM_002397.5(MEF2C):c.259-19T>C
NM_002397.5(MEF2C):c.303C>G (p.Pro101=)
NM_002397.5(MEF2C):c.306T>C (p.Asp102=)
NM_002397.5(MEF2C):c.30G>A (p.Arg10=) rs2153222913
NM_002397.5(MEF2C):c.318C>T (p.Ser106=) rs760986750
NM_002397.5(MEF2C):c.352A>C (p.Arg118=)
NM_002397.5(MEF2C):c.402+19del
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.403-8T>A rs1581754208
NM_002397.5(MEF2C):c.456C>T (p.His152=) rs1554112204
NM_002397.5(MEF2C):c.463T>C (p.Leu155=) rs927377195
NM_002397.5(MEF2C):c.471C>T (p.Tyr157=)
NM_002397.5(MEF2C):c.490C>T (p.Leu164=) rs1390261667
NM_002397.5(MEF2C):c.514C>T (p.Leu172=) rs1772969049
NM_002397.5(MEF2C):c.51A>G (p.Arg17=)
NM_002397.5(MEF2C):c.522C>T (p.His174=)
NM_002397.5(MEF2C):c.534G>A (p.Gln178=)
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+8G>T rs2153222799
NM_002397.5(MEF2C):c.55-14T>C
NM_002397.5(MEF2C):c.566G>A (p.Arg189Gln)
NM_002397.5(MEF2C):c.589+16G>T
NM_002397.5(MEF2C):c.590-15C>G
NM_002397.5(MEF2C):c.590-4A>G
NM_002397.5(MEF2C):c.595C>T (p.Leu199=) rs1472815211
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.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.638-15G>A
NM_002397.5(MEF2C):c.638-7T>C
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.657C>T (p.Pro219=) rs1477294607
NM_002397.5(MEF2C):c.66A>G (p.Thr22=) rs2153075042
NM_002397.5(MEF2C):c.690T>C (p.Gly230=) rs1168200349
NM_002397.5(MEF2C):c.699C>T (p.Asn233=) rs2152280530
NM_002397.5(MEF2C):c.729A>G (p.Pro243=)
NM_002397.5(MEF2C):c.72G>A (p.Arg24=) rs1057522729
NM_002397.5(MEF2C):c.750C>T (p.Asn250=)
NM_002397.5(MEF2C):c.768A>G (p.Arg256=) rs2152279899
NM_002397.5(MEF2C):c.773T>A (p.Leu258His) rs1268731100
NM_002397.5(MEF2C):c.810+13T>G
NM_002397.5(MEF2C):c.811-14C>T
NM_002397.5(MEF2C):c.811-17C>T
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.855C>T (p.Ser285=)
NM_002397.5(MEF2C):c.864T>C (p.Ala288=) rs2152224964
NM_002397.5(MEF2C):c.891C>T (p.Ser297=) rs755665375
NM_002397.5(MEF2C):c.900T>A (p.Thr300=)
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.965-6A>C rs2152209415
NM_002397.5(MEF2C):c.988C>T (p.Leu330=)
NM_002397.5(MEF2C):c.990G>T (p.Leu330=)
NM_002397.5(MEF2C):c.99T>C (p.Tyr33=)

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