ClinVar Miner

List of variants in gene MECP2 reported as uncertain significance by GeneDx

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Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln) rs145790362 0.00005
NM_001110792.2(MECP2):c.1177C>T (p.Pro393Ser) rs61752981 0.00004
NM_001110792.2(MECP2):c.1250C>T (p.Pro417Leu) rs61753016 0.00004
NM_001110792.2(MECP2):c.307C>T (p.Arg103Trp) rs782320257 0.00003
NM_001110792.2(MECP2):c.1483G>A (p.Glu495Lys) rs587777421 0.00002
NM_001110792.2(MECP2):c.242G>T (p.Gly81Val) rs1557137890 0.00002
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) rs179363900 0.00002
NM_001110792.2(MECP2):c.604C>T (p.Arg202Cys) rs587783137 0.00002
NM_001110792.2(MECP2):c.727G>A (p.Gly243Arg) rs587783139 0.00002
NM_001110792.2(MECP2):c.1018C>G (p.Leu340Val) rs267608556 0.00001
NM_001110792.2(MECP2):c.289C>T (p.Arg97Cys) rs1064797047 0.00001
NM_001110792.2(MECP2):c.598C>T (p.Arg200Trp) rs782467549 0.00001
NM_001110792.2(MECP2):c.723G>T (p.Ser241=) rs782461567 0.00001
NM_001110792.2(MECP2):c.860T>C (p.Val287Ala) rs143989769 0.00001
NM_001110792.2(MECP2):c.920C>A (p.Ser307Tyr) rs1327387670 0.00001
NM_001110792.2(MECP2):c.1033G>A (p.Gly345Arg)
NM_001110792.2(MECP2):c.1042C>G (p.Leu348Val) rs587783104
NM_001110792.2(MECP2):c.105C>G (p.Asp35Glu)
NM_001110792.2(MECP2):c.1081_1131del (p.Ser361_Glu377del)
NM_001110792.2(MECP2):c.1085G>A (p.Ser362Asn) rs1557136008
NM_001110792.2(MECP2):c.109C>T (p.Pro37Ser) rs1275570991
NM_001110792.2(MECP2):c.1120C>T (p.Pro374Ser) rs782171742
NM_001110792.2(MECP2):c.1123AAG[1] (p.Lys376del) rs1305887312
NM_001110792.2(MECP2):c.1124A>C (p.Lys375Thr) rs1057520135
NM_001110792.2(MECP2):c.1132C>T (p.His378Tyr) rs2065928374
NM_001110792.2(MECP2):c.1134CCA[2] (p.His384del) rs61752381
NM_001110792.2(MECP2):c.1151_1154delinsCCCA (p.His384_Ser385delinsProGln) rs2148660984
NM_001110792.2(MECP2):c.1174_1191del (p.Val392_Pro397del)
NM_001110792.2(MECP2):c.1181_1207del (p.Leu394_Pro402del) rs587783094
NM_001110792.2(MECP2):c.1195C>T (p.Pro399Ser) rs1171658384
NM_001110792.2(MECP2):c.1198_1224del (p.Pro400_Ser408del) rs782783878
NM_001110792.2(MECP2):c.1212G>C (p.Glu404Asp) rs61753009
NM_001110792.2(MECP2):c.1216_1251del (p.Glu406_Pro417del) rs782746707
NM_001110792.2(MECP2):c.1241C>G (p.Pro414Arg) rs61753014
NM_001110792.2(MECP2):c.1243C>T (p.Pro415Ser)
NM_001110792.2(MECP2):c.1261AGC[2] (p.Ser423del) rs2065909462
NM_001110792.2(MECP2):c.1289T>C (p.Met430Thr) rs1210814372
NM_001110792.2(MECP2):c.1313G>A (p.Ser438Asn) rs2148659072
NM_001110792.2(MECP2):c.1337C>G (p.Ala446Gly) rs2148658933
NM_001110792.2(MECP2):c.1369A>G (p.Thr457Ala) rs2065904640
NM_001110792.2(MECP2):c.1382A>G (p.Lys461Arg)
NM_001110792.2(MECP2):c.1412A>G (p.Lys471Arg) rs1557134964
NM_001110792.2(MECP2):c.1445A>T (p.Asn482Ile) rs1270065515
NM_001110792.2(MECP2):c.1455G>C (p.Glu485Asp) rs75498268
NM_001110792.2(MECP2):c.26C>G (p.Pro9Arg)
NM_001110792.2(MECP2):c.286C>T (p.Arg96Trp) rs1557137821
NM_001110792.2(MECP2):c.412A>G (p.Asn138Asp) rs1064796513
NM_001110792.2(MECP2):c.413+2dup rs1057518521
NM_001110792.2(MECP2):c.414-11T>A
NM_001110792.2(MECP2):c.462C>G (p.Phe154Leu) rs61748397
NM_001110792.2(MECP2):c.484C>G (p.Leu162Val)
NM_001110792.2(MECP2):c.539G>C (p.Arg180Pro)
NM_001110792.2(MECP2):c.553C>A (p.Pro185Thr) rs61748427
NM_001110792.2(MECP2):c.557A>C (p.Lys186Thr) rs782700352
NM_001110792.2(MECP2):c.571C>G (p.Pro191Ala) rs1362774583
NM_001110792.2(MECP2):c.572C>T (p.Pro191Leu)
NM_001110792.2(MECP2):c.577G>T (p.Ala193Ser) rs2148663753
NM_001110792.2(MECP2):c.578C>G (p.Ala193Gly)
NM_001110792.2(MECP2):c.57G>C (p.Glu19Asp) rs587783133
NM_001110792.2(MECP2):c.589G>A (p.Gly197Ser) rs587783135
NM_001110792.2(MECP2):c.635A>C (p.Lys212Thr) rs2148663508
NM_001110792.2(MECP2):c.671T>A (p.Val224Asp) rs2065950854
NM_001110792.2(MECP2):c.728G>C (p.Gly243Ala)
NM_001110792.2(MECP2):c.731G>A (p.Gly244Asp) rs61748422
NM_001110792.2(MECP2):c.732C>T (p.Gly244=) rs2065947928
NM_001110792.2(MECP2):c.76G>A (p.Glu26Lys) rs2065991940
NM_001110792.2(MECP2):c.800G>C (p.Arg267Pro)
NM_001110792.2(MECP2):c.806C>A (p.Ala269Asp)
NM_001110792.2(MECP2):c.818C>G (p.Pro273Arg)
NM_001110792.2(MECP2):c.824C>G (p.Ala275Gly) rs782576004
NM_001110792.2(MECP2):c.869C>T (p.Ala290Val) rs781971438
NM_001110792.2(MECP2):c.884C>A (p.Ala295Asp) rs1186486711
NM_001110792.2(MECP2):c.920C>G (p.Ser307Cys) rs1327387670
NM_001110792.2(MECP2):c.932C>T (p.Thr311Ile)

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