ClinVar Miner

List of variants in gene MEF2C reported as uncertain significance for Intellectual disability, autosomal dominant 20

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Total variants: 118
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HGVS dbSNP gnomAD frequency
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.1100+3A>G rs779821248 0.00002
NM_002397.5(MEF2C):c.1015G>A (p.Ala339Thr) rs778783316 0.00001
NM_002397.5(MEF2C):c.1340T>C (p.Ile447Thr) rs753156153 0.00001
NM_002397.5(MEF2C):c.440T>G (p.Ile147Ser) rs1366038563 0.00001
NM_002397.5(MEF2C):c.544A>G (p.Met182Val) rs1250885583 0.00001
NM_002397.5(MEF2C):c.585C>T (p.Asn195=) rs398123686 0.00001
NM_002397.5(MEF2C):c.860C>T (p.Ser287Leu) rs777826971 0.00001
NC_000005.9:g.(?_87976333)_(88057095_?)del
NM_002397.5(MEF2C):c.-142-25787T>G rs2153377579
NM_002397.5(MEF2C):c.1037C>T (p.Ser346Leu)
NM_002397.5(MEF2C):c.1072A>G (p.Met358Val)
NM_002397.5(MEF2C):c.1084G>T (p.Ala362Ser) rs1481007836
NM_002397.5(MEF2C):c.110T>C (p.Val37Ala) rs1799677960
NM_002397.5(MEF2C):c.1115C>T (p.Thr372Ile)
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.1142C>T (p.Ser381Phe)
NM_002397.5(MEF2C):c.119A>G (p.Asp40Gly) rs2153074606
NM_002397.5(MEF2C):c.1207A>T (p.Thr403Ser)
NM_002397.5(MEF2C):c.1211C>A (p.Thr404Asn) rs1756812909
NM_002397.5(MEF2C):c.1247C>T (p.Ala416Val) rs768570497
NM_002397.5(MEF2C):c.1258C>T (p.Pro420Ser)
NM_002397.5(MEF2C):c.1283G>A (p.Ser428Asn)
NM_002397.5(MEF2C):c.128T>G (p.Ile43Ser)
NM_002397.5(MEF2C):c.1296C>G (p.Asp432Glu)
NM_002397.5(MEF2C):c.1298_1303dup (p.Gly433_Ser434dup) rs1272732104
NM_002397.5(MEF2C):c.1301G>A (p.Ser434Asn)
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.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.1366G>T (p.Glu456Ter)
NM_002397.5(MEF2C):c.1368A>C (p.Glu456Asp)
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.1403C>T (p.Ser468Phe) rs607159
NM_002397.5(MEF2C):c.196C>G (p.Leu66Val) rs1799641525
NM_002397.5(MEF2C):c.1A>G (p.Met1Val) rs1432291994
NM_002397.5(MEF2C):c.206A>T (p.Tyr69Phe) rs2153074116
NM_002397.5(MEF2C):c.21G>T (p.Gln7His) rs1554150584
NM_002397.5(MEF2C):c.22A>T (p.Ile8Phe)
NM_002397.5(MEF2C):c.258+20G>A
NM_002397.5(MEF2C):c.258+3G>A
NM_002397.5(MEF2C):c.258+4A>G
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.286T>G (p.Cys96Gly)
NM_002397.5(MEF2C):c.304G>C (p.Asp102His) rs2152674244
NM_002397.5(MEF2C):c.312C>A (p.Asp104Glu)
NM_002397.5(MEF2C):c.313G>A (p.Asp105Asn)
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.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.402+145A>G rs1777617806
NM_002397.5(MEF2C):c.40G>A (p.Glu14Lys)
NM_002397.5(MEF2C):c.413C>A (p.Pro138His)
NM_002397.5(MEF2C):c.43C>G (p.Arg15Gly)
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.461G>T (p.Ser154Ile)
NM_002397.5(MEF2C):c.478C>T (p.Pro160Ser) rs1772995609
NM_002397.5(MEF2C):c.511C>T (p.Pro171Ser)
NM_002397.5(MEF2C):c.517G>A (p.Ala173Thr)
NM_002397.5(MEF2C):c.521A>G (p.His174Arg)
NM_002397.5(MEF2C):c.53A>G (p.Gln18Arg)
NM_002397.5(MEF2C):c.54+5G>A
NM_002397.5(MEF2C):c.54+6T>C
NM_002397.5(MEF2C):c.541A>G (p.Ser181Gly)
NM_002397.5(MEF2C):c.541A>T (p.Ser181Cys)
NM_002397.5(MEF2C):c.55-3T>G
NM_002397.5(MEF2C):c.553G>A (p.Gly185Ser)
NM_002397.5(MEF2C):c.559A>G (p.Thr187Ala)
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+6T>A rs1370610061
NM_002397.5(MEF2C):c.589G>A (p.Gly197Ser)
NM_002397.5(MEF2C):c.58A>G (p.Thr20Ala) rs1554139870
NM_002397.5(MEF2C):c.592G>A (p.Gly198Ser) rs1029856807
NM_002397.5(MEF2C):c.595C>G (p.Leu199Val)
NM_002397.5(MEF2C):c.59C>T (p.Thr20Ile) rs2153075088
NM_002397.5(MEF2C):c.614C>T (p.Thr205Met)
NM_002397.5(MEF2C):c.614_626delinsGTCTCCAC (p.Thr205fs) rs1554110298
NM_002397.5(MEF2C):c.622G>A (p.Ala208Thr)
NM_002397.5(MEF2C):c.626_627insTCTCCAC (p.Thr210fs) rs2152497336
NM_002397.5(MEF2C):c.638-4A>G
NM_002397.5(MEF2C):c.655C>A (p.Pro219Thr)
NM_002397.5(MEF2C):c.656C>T (p.Pro219Leu) rs1761821562
NM_002397.5(MEF2C):c.658C>T (p.Arg220Ter) rs1761818173
NM_002397.5(MEF2C):c.664T>C (p.Ser222Pro)
NM_002397.5(MEF2C):c.685C>A (p.Pro229Thr)
NM_002397.5(MEF2C):c.685C>T (p.Pro229Ser)
NM_002397.5(MEF2C):c.70A>G (p.Arg24Gly)
NM_002397.5(MEF2C):c.724C>G (p.Pro242Ala)
NM_002397.5(MEF2C):c.746A>G (p.Asn249Ser)
NM_002397.5(MEF2C):c.751C>T (p.Arg251Cys) rs1761787183
NM_002397.5(MEF2C):c.767G>A (p.Arg256Gln) rs1761775496
NM_002397.5(MEF2C):c.769G>C (p.Val257Leu)
NM_002397.5(MEF2C):c.775A>G (p.Ile259Val)
NM_002397.5(MEF2C):c.788G>T (p.Ser263Ile) rs2152279598
NM_002397.5(MEF2C):c.823G>A (p.Asp275Asn)
NM_002397.5(MEF2C):c.823G>C (p.Asp275His)
NM_002397.5(MEF2C):c.892G>A (p.Val298Ile)
NM_002397.5(MEF2C):c.919G>C (p.Gly307Arg)
NM_002397.5(MEF2C):c.91A>G (p.Lys31Glu)
NM_002397.5(MEF2C):c.940G>T (p.Ala314Ser)
NM_002397.5(MEF2C):c.952A>G (p.Thr318Ala)
NM_002397.5(MEF2C):c.976A>G (p.Ser326Gly)
NM_002397.5(MEF2C):c.992C>T (p.Ser331Leu)

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