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:c.384_1164del
NM_001110792.2(MECP2):c.1020C>T (p.Leu340=) rs61751442
NM_001110792.2(MECP2):c.1032C>T (p.Ser344=) rs148744894
NM_001110792.2(MECP2):c.1043_1230del (p.Leu348fs) rs1557135418
NM_001110792.2(MECP2):c.1049C>G (p.Thr350Ser) rs786204313
NM_001110792.2(MECP2):c.1071A>G (p.Lys357=) rs61752362
NM_001110792.2(MECP2):c.1096C>T (p.Arg366Cys) rs143876280
NM_001110792.2(MECP2):c.1102_1202del (p.Ser369fs) rs1557135664
NM_001110792.2(MECP2):c.1107C>T (p.Ser369=) rs61750236
NM_001110792.2(MECP2):c.1111T>C (p.Ser371Pro) rs61752371
NM_001110792.2(MECP2):c.1154C>G (p.Ser385Ter) rs267608569
NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser) rs61752387
NM_001110792.2(MECP2):c.1176G>A (p.Val392=) rs201711454
NM_001110792.2(MECP2):c.1188_1231del (p.Pro397fs) rs267608372
NM_001110792.2(MECP2):c.1190C>A (p.Pro397His) rs111302745
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs) rs63749748
NM_001110792.2(MECP2):c.1194_*117del (p.Pro399fs) rs1557134720
NM_001110792.2(MECP2):c.1198_1203CCACCT[1] (p.Pro402_Pro403del) rs61753008
NM_001110792.2(MECP2):c.1199_1224del (p.Pro400fs) rs267608600
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.1204C>G (p.Pro402Ala) rs797045690
NM_001110792.2(MECP2):c.1206_1243del (p.Pro402_Pro403insTer) rs267608609
NM_001110792.2(MECP2):c.1216G>T (p.Glu406Ter) rs63094662
NM_001110792.2(MECP2):c.1224C>T (p.Ser408=) rs781816931
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439
NM_001110792.2(MECP2):c.1231C>T (p.Pro411Ser) rs797045691
NM_001110792.2(MECP2):c.1233C>T (p.Pro411=) rs61753012
NM_001110792.2(MECP2):c.1238G>C (p.Ser413Thr) rs62707562
NM_001110792.2(MECP2):c.1250_1266del (p.Pro417fs) rs267608615
NM_001110792.2(MECP2):c.1269C>T (p.Ser423=) rs3027928
NM_001110792.2(MECP2):c.1270G>A (p.Val424Ile) rs61753966
NM_001110792.2(MECP2):c.1273T>C (p.Cys425Arg) rs797045692
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser) rs140258520
NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr) rs61753973
NM_001110792.2(MECP2):c.1362C>T (p.Thr454=) rs61751363
NM_001110792.2(MECP2):c.1364C>T (p.Ala455Val) rs375101073
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) rs61753975
NM_001110792.2(MECP2):c.1371G>A (p.Thr457=) rs3027927
NM_001110792.2(MECP2):c.1393C>T (p.Arg465Ter) rs61753979
NM_001110792.2(MECP2):c.1409G>A (p.Arg470His) rs185957513
NM_001110792.2(MECP2):c.1436C>G (p.Pro479Arg) rs782042904
NM_001110792.2(MECP2):c.1473G>A (p.Thr491=) rs587781033
NM_001110792.2(MECP2):c.1477G>A (p.Val493Met) rs193922678
NM_001110792.2(MECP2):c.1487G>C (p.Arg496Thr) rs267608370
NM_001110792.2(MECP2):c.182C>G (p.Ser61Ter) rs61754432
NM_001110792.2(MECP2):c.230C>G (p.Ser77Ter) rs61754437
NM_001110792.2(MECP2):c.246C>T (p.Ser82=) rs61754439
NM_001110792.2(MECP2):c.251del (p.Pro84fs) rs61754441
NM_001110792.2(MECP2):c.252G>A (p.Pro84=) rs781942427
NM_001110792.2(MECP2):c.260C>T (p.Pro87Leu) rs267608440
NM_001110792.2(MECP2):c.30_31del (p.Ser10fs) rs797045693
NM_001110792.2(MECP2):c.312A>G (p.Gly104=) rs140191561
NM_001110792.2(MECP2):c.337C>T (p.Pro113Ser) rs61754452
NM_001110792.2(MECP2):c.338C>G (p.Pro113Arg) rs61754453
NM_001110792.2(MECP2):c.33_35AGG[7] (p.Gly15_Gly16dup) rs587783744
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517
NM_001110792.2(MECP2):c.429C>G (p.Ala143=) rs61748385
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys) rs61748390
NM_001110792.2(MECP2):c.488A>G (p.Asp163Gly) rs61748403
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.504C>G (p.Asp168Glu) rs61748408
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.510G>A (p.Thr170=) rs61748413
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.542A>G (p.Glu181Gly) rs587783745
NM_001110792.2(MECP2):c.554C>G (p.Pro185Arg) rs267608492
NM_001110792.2(MECP2):c.564C>T (p.Pro188=) rs61754420
NM_001110792.2(MECP2):c.618C>T (p.Ser206=) rs61749711
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser) rs61749713
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met) rs61749714
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381
NM_001110792.2(MECP2):c.644C>T (p.Thr215Met) rs61749720
NM_001110792.2(MECP2):c.6_8CGC[7] (p.Ala8dup) rs398123566
NM_001110792.2(MECP2):c.701_707dup (p.Met236fs) rs797045695
NM_001110792.2(MECP2):c.709C>A (p.Pro237Thr) rs267608513
NM_001110792.2(MECP2):c.719C>G (p.Thr240Ser) rs61749738
NM_001110792.2(MECP2):c.722C>A (p.Ser241Ter) rs61749739
NM_001110792.2(MECP2):c.722C>T (p.Ser241Leu) rs61749739
NM_001110792.2(MECP2):c.725_792del (p.Pro242fs) rs1557136493
NM_001110792.2(MECP2):c.737C>A (p.Ala246Asp) rs138211345
NM_001110792.2(MECP2):c.750G>A (p.Gly250=) rs369813305
NM_001110792.2(MECP2):c.766C>T (p.Gln256Ter) rs61749747
NM_001110792.2(MECP2):c.772_779delinsGTG (p.Met258fs) rs267608520
NM_001110792.2(MECP2):c.784C>T (p.Arg262Cys) rs141382970
NM_001110792.2(MECP2):c.786C>T (p.Arg262=) rs61748424
NM_001110792.2(MECP2):c.788_789dup (p.Gly264fs) rs61749751
NM_001110792.2(MECP2):c.789C>T (p.Pro263=) rs63582063
NM_001110792.2(MECP2):c.791del (p.Gly264fs) rs61750232
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.813C>T (p.Ala271=) rs1042870
NM_001110792.2(MECP2):c.83_93del (p.Gln28fs) rs797045694
NM_001110792.2(MECP2):c.842del (p.Gly281fs) rs61750241
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.852G>A (p.Pro284=) rs587783746
NM_001110792.2(MECP2):c.870_975del (p.Ala291fs) rs1557136146
NM_001110792.2(MECP2):c.877G>A (p.Ala293Thr) rs782239416
NM_001110792.2(MECP2):c.879C>T (p.Ala293=) rs61750252
NM_001110792.2(MECP2):c.885C>G (p.Ala295=) rs61750253
NM_001110792.2(MECP2):c.893A>G (p.Lys298Arg) rs267608533
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.92dup (p.Leu33fs) rs267608417
NM_001110792.2(MECP2):c.933C>T (p.Thr311=) rs61748423
NM_001110792.2(MECP2):c.934_1202del (p.Val312fs) rs1557135666
NM_001110792.2(MECP2):c.947A>G (p.Lys316Arg) rs267608550
NM_001110792.2(MECP2):c.94G>C (p.Gly32Arg) rs1557138023
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001110792.2(MECP2):c.953G>A (p.Arg318His) rs61751443
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001110792.2(MECP2):c.978C>T (p.Ile326=) rs61751446
NM_004992.3(MECP2):c.*14G>A rs199963992
NM_004992.3(MECP2):c.*9G>A rs144008995
NM_004992.3(MECP2):c.1276_*113del299ins3
NM_004992.3(MECP2):c.763_1383del621ins15 (p.?)
NM_004992.3(MECP2):c.943_1140del198ins6

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