ClinVar Miner

List of variants in gene MECP2 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 118
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HGVS dbSNP
NM_001110792.1(MECP2):c.1193_*116del421 rs1557134720
NM_001110792.1:c.384_1164del
NM_001110792.2(MECP2):c.30_31del (p.Ser10fs) rs797045693
NM_001110792.2(MECP2):c.33_35AGG[7] (p.Gly15_Gly16dup) rs587783744
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517
NM_001110792.2(MECP2):c.6_8CGC[7] (p.Ala8dup) rs398123566
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_004992.3(MECP2):c.*14G>A rs199963992
NM_004992.3(MECP2):c.*9G>A rs144008995
NM_004992.3(MECP2):c.1007_1194del (p.Leu336fs) rs1557135418
NM_004992.3(MECP2):c.1013C>G (p.Thr338Ser) rs786204313
NM_004992.3(MECP2):c.1035A>G (p.Lys345=) rs61752362
NM_004992.3(MECP2):c.1060C>T (p.Arg354Cys) rs143876280
NM_004992.3(MECP2):c.1066_1166del (p.Ser357fs) rs1557135664
NM_004992.3(MECP2):c.1071C>T (p.Ser357=) rs61750236
NM_004992.3(MECP2):c.1075T>C (p.Ser359Pro) rs61752371
NM_004992.3(MECP2):c.1118C>G (p.Ser373Ter) rs267608569
NM_004992.3(MECP2):c.1126C>T (p.Pro376Ser) rs61752387
NM_004992.3(MECP2):c.1140G>A (p.Val380=) rs201711454
NM_004992.3(MECP2):c.1152_1195del (p.Pro385fs) rs267608372
NM_004992.3(MECP2):c.1154C>A (p.Pro385His) rs111302745
NM_004992.3(MECP2):c.1157_1197del (p.Leu386fs) rs267608327
NM_004992.3(MECP2):c.1157_1200del (p.Leu386fs) rs63749748
NM_004992.3(MECP2):c.1162_1167CCACCT[1] (p.Pro390_Pro391del) rs61753008
NM_004992.3(MECP2):c.1163_1188del (p.Pro388fs) rs267608600
NM_004992.3(MECP2):c.1164_1207del (p.Pro388_Pro389insTer) rs61752992
NM_004992.3(MECP2):c.1168C>G (p.Pro390Ala) rs797045690
NM_004992.3(MECP2):c.1170_1207del (p.Pro390_Pro391insTer) rs267608609
NM_004992.3(MECP2):c.1180G>T (p.Glu394Ter) rs63094662
NM_004992.3(MECP2):c.1188C>T (p.Ser396=) rs781816931
NM_004992.3(MECP2):c.1189G>A (p.Glu397Lys) rs56268439
NM_004992.3(MECP2):c.1195C>T (p.Pro399Ser) rs797045691
NM_004992.3(MECP2):c.1197C>T (p.Pro399=) rs61753012
NM_004992.3(MECP2):c.1202G>C (p.Ser401Thr) rs62707562
NM_004992.3(MECP2):c.1214_1230del (p.Pro405fs) rs267608615
NM_004992.3(MECP2):c.1233C>T (p.Ser411=) rs3027928
NM_004992.3(MECP2):c.1234G>A (p.Val412Ile) rs61753966
NM_004992.3(MECP2):c.1237T>C (p.Cys413Arg) rs797045692
NM_004992.3(MECP2):c.1255C>T (p.Pro419Ser) rs140258520
NM_004992.3(MECP2):c.1276_*113del299ins3
NM_004992.3(MECP2):c.1315G>A (p.Ala439Thr) rs61753973
NM_004992.3(MECP2):c.1326C>T (p.Thr442=) rs61751363
NM_004992.3(MECP2):c.1328C>T (p.Ala443Val) rs375101073
NM_004992.3(MECP2):c.1330G>A (p.Ala444Thr) rs61753975
NM_004992.3(MECP2):c.1335G>A (p.Thr445=) rs3027927
NM_004992.3(MECP2):c.1357C>T (p.Arg453Ter) rs61753979
NM_004992.3(MECP2):c.1373G>A (p.Arg458His) rs185957513
NM_004992.3(MECP2):c.1400C>G (p.Pro467Arg) rs782042904
NM_004992.3(MECP2):c.1437G>A (p.Thr479=) rs587781033
NM_004992.3(MECP2):c.1441G>A (p.Val481Met) rs193922678
NM_004992.3(MECP2):c.1451G>C (p.Arg484Thr) rs267608370
NM_004992.3(MECP2):c.146C>G (p.Ser49Ter) rs61754432
NM_004992.3(MECP2):c.194C>G (p.Ser65Ter) rs61754437
NM_004992.3(MECP2):c.210C>T (p.Ser70=) rs61754439
NM_004992.3(MECP2):c.215del (p.Pro72fs) rs61754441
NM_004992.3(MECP2):c.216G>A (p.Pro72=) rs781942427
NM_004992.3(MECP2):c.224C>T (p.Pro75Leu) rs267608440
NM_004992.3(MECP2):c.276A>G (p.Gly92=) rs140191561
NM_004992.3(MECP2):c.301C>T (p.Pro101Ser) rs61754452
NM_004992.3(MECP2):c.302C>G (p.Pro101Arg) rs61754453
NM_004992.3(MECP2):c.316C>T (p.Arg106Trp) rs28934907
NM_004992.3(MECP2):c.393C>G (p.Ala131=) rs61748385
NM_004992.3(MECP2):c.397C>T (p.Arg133Cys) rs28934904
NM_004992.3(MECP2):c.401C>G (p.Ser134Cys) rs61748390
NM_004992.3(MECP2):c.452A>G (p.Asp151Gly) rs61748403
NM_004992.3(MECP2):c.455C>G (p.Pro152Arg) rs61748404
NM_004992.3(MECP2):c.468C>G (p.Asp156Glu) rs61748408
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_004992.3(MECP2):c.474G>A (p.Thr158=) rs61748413
NM_004992.3(MECP2):c.47_57del (p.Gln16fs) rs797045694
NM_004992.3(MECP2):c.499C>T (p.Arg167Trp) rs61748420
NM_004992.3(MECP2):c.502C>T (p.Arg168Ter) rs61748421
NM_004992.3(MECP2):c.506A>G (p.Glu169Gly) rs587783745
NM_004992.3(MECP2):c.518C>G (p.Pro173Arg) rs267608492
NM_004992.3(MECP2):c.528C>T (p.Pro176=) rs61754420
NM_004992.3(MECP2):c.56dup (p.Leu21fs) rs267608417
NM_004992.3(MECP2):c.582C>T (p.Ser194=) rs61749711
NM_004992.3(MECP2):c.587C>G (p.Thr196Ser) rs61749713
NM_004992.3(MECP2):c.58G>C (p.Gly20Arg) rs1557138023
NM_004992.3(MECP2):c.590C>T (p.Thr197Met) rs61749714
NM_004992.3(MECP2):c.602C>T (p.Ala201Val) rs61748381
NM_004992.3(MECP2):c.608C>T (p.Thr203Met) rs61749720
NM_004992.3(MECP2):c.665_671dup (p.Met224fs) rs797045695
NM_004992.3(MECP2):c.673C>A (p.Pro225Thr) rs267608513
NM_004992.3(MECP2):c.683C>G (p.Thr228Ser) rs61749738
NM_004992.3(MECP2):c.686C>A (p.Ser229Ter) rs61749739
NM_004992.3(MECP2):c.686C>T (p.Ser229Leu) rs61749739
NM_004992.3(MECP2):c.689_756del (p.Pro230fs) rs1557136493
NM_004992.3(MECP2):c.701C>A (p.Ala234Asp) rs138211345
NM_004992.3(MECP2):c.714G>A (p.Gly238=) rs369813305
NM_004992.3(MECP2):c.730C>T (p.Gln244Ter) rs61749747
NM_004992.3(MECP2):c.736_743delinsGTG (p.Met246fs) rs267608520
NM_004992.3(MECP2):c.748C>T (p.Arg250Cys) rs141382970
NM_004992.3(MECP2):c.750C>T (p.Arg250=) rs61748424
NM_004992.3(MECP2):c.752_753dup (p.Gly252fs) rs61749751
NM_004992.3(MECP2):c.753C>T (p.Pro251=) rs63582063
NM_004992.3(MECP2):c.755del (p.Gly252fs) rs61750232
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_004992.3(MECP2):c.763_1383del621ins15 (p.?)
NM_004992.3(MECP2):c.777C>T (p.Ala259=) rs1042870
NM_004992.3(MECP2):c.806del (p.Gly269fs) rs61750241
NM_004992.3(MECP2):c.816G>A (p.Pro272=) rs587783746
NM_004992.3(MECP2):c.834_939del (p.Ala279fs) rs1557136146
NM_004992.3(MECP2):c.841G>A (p.Ala281Thr) rs782239416
NM_004992.3(MECP2):c.843C>T (p.Ala281=) rs61750252
NM_004992.3(MECP2):c.849C>G (p.Ala283=) rs61750253
NM_004992.3(MECP2):c.857A>G (p.Lys286Arg) rs267608533
NM_004992.3(MECP2):c.897C>T (p.Thr299=) rs61748423
NM_004992.3(MECP2):c.898_1166del (p.Val300fs) rs1557135666
NM_004992.3(MECP2):c.911A>G (p.Lys304Arg) rs267608550
NM_004992.3(MECP2):c.916C>T (p.Arg306Cys) rs28935468
NM_004992.3(MECP2):c.917G>A (p.Arg306His) rs61751443
NM_004992.3(MECP2):c.925C>T (p.Arg309Trp) rs61751444
NM_004992.3(MECP2):c.942C>T (p.Ile314=) rs61751446
NM_004992.3(MECP2):c.943_1140del198ins6
NM_004992.3(MECP2):c.984C>T (p.Leu328=) rs61751442
NM_004992.3(MECP2):c.996C>T (p.Ser332=) rs148744894

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