ClinVar Miner

List of variants in gene MEF2C studied for 5q14.3 microdeletion syndrome

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Total variants: 44
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HGVS dbSNP
MEF2C, 1-BP DUP, 99T
NC_000005.9:g.(?_88119532)_(88119625_?)del
NC_000005.9:g.88142510_88347193del204684insG
NM_001131005.2(MEF2C):c.108C>T (p.Ser36=) rs143129901
NM_001131005.2(MEF2C):c.113T>A (p.Leu38Gln) rs397514655
NM_001131005.2(MEF2C):c.1217C>T (p.Ala406Val) rs768570497
NM_001131005.2(MEF2C):c.1301A>C (p.His434Pro) rs1554098567
NM_001131005.2(MEF2C):c.1355T>C (p.Val452Ala)
NM_001131005.2(MEF2C):c.1373C>T (p.Ser458Phe) rs607159
NM_001131005.2(MEF2C):c.180C>T (p.Thr60=) rs773278207
NM_001131005.2(MEF2C):c.192dup (p.Val65fs)
NM_001131005.2(MEF2C):c.1A>G (p.Met1Val) rs1432291994
NM_001131005.2(MEF2C):c.21G>T (p.Gln7His) rs1554150584
NM_001131005.2(MEF2C):c.252C>T (p.Ile84=) rs780952466
NM_001131005.2(MEF2C):c.258+7G>C rs372739987
NM_001131005.2(MEF2C):c.259-150C>T rs587781034
NM_001131005.2(MEF2C):c.2T>C (p.Met1Thr) rs545185248
NM_001131005.2(MEF2C):c.3G>C (p.Met1Ile) rs1554150607
NM_001131005.2(MEF2C):c.405del (p.Pro136fs)
NM_001131005.2(MEF2C):c.407del (p.Pro136fs)
NM_001131005.2(MEF2C):c.434T>G (p.Ile145Ser) rs1366038563
NM_001131005.2(MEF2C):c.441G>C (p.Val147=) rs1554112223
NM_001131005.2(MEF2C):c.44G>A (p.Arg15His) rs1202957297
NM_001131005.2(MEF2C):c.452del (p.Asn151fs) rs730882192
NM_001131005.2(MEF2C):c.538A>G (p.Met180Val) rs1250885583
NM_001131005.2(MEF2C):c.559C>T (p.Arg187Ter) rs587783747
NM_001131005.2(MEF2C):c.579C>T (p.Asn193=) rs398123686
NM_001131005.2(MEF2C):c.583+6T>A rs1370610061
NM_001131005.2(MEF2C):c.608_620delinsGTCTCCAC (p.Thr203fs) rs1554110298
NM_001131005.2(MEF2C):c.609G>A (p.Thr203=) rs776496777
NM_001131005.2(MEF2C):c.632-2A>C rs1554102556
NM_001131005.2(MEF2C):c.636C>T (p.Asn212=) rs79455305
NM_001131005.2(MEF2C):c.677C>G (p.Ser226Ter) rs267607233
NM_001131005.2(MEF2C):c.68A>G (p.Lys23Arg) rs797045053
NM_001131005.2(MEF2C):c.71G>A (p.Arg24Lys) rs869312698
NM_001131005.2(MEF2C):c.724A>G (p.Met242Val) rs752349182
NM_001131005.2(MEF2C):c.753A>G (p.Pro251=) rs368575766
NM_001131005.2(MEF2C):c.774dup (p.Pro259fs) rs1561697465
NM_001131005.2(MEF2C):c.805-865del rs587783749
NM_001131005.2(MEF2C):c.80G>C (p.Gly27Ala) rs397514656
NM_001131005.2(MEF2C):c.830C>T (p.Ser277Leu) rs777826971
NM_001131005.2(MEF2C):c.878dup (p.Leu293fs)
NM_001131005.2(MEF2C):c.950G>C (p.Ser317Thr) rs796052726
NM_001131005.2(MEF2C):c.9A>T (p.Arg3Ser) rs876661308

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