ClinVar Miner

List of variants in gene MECP2 reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 83
Download table as spreadsheet
HGVS dbSNP
NM_001110792.1(MECP2):c.45_47dupAGG (p.Gly16dup) rs587783744
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517
NM_001110792.2(MECP2):c.6_8CGC[3] (p.Ala6_Ala8del) rs398123566
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.1035A>G (p.Lys345=) rs61752362
NM_004992.3(MECP2):c.1060C>T (p.Arg354Cys) rs143876280
NM_004992.3(MECP2):c.1071C>T (p.Ser357=) rs61750236
NM_004992.3(MECP2):c.1125C>T (p.Ser375=) rs782221170
NM_004992.3(MECP2):c.1126C>T (p.Pro376Ser) rs61752387
NM_004992.3(MECP2):c.1133C>T (p.Ala378Val) rs201314910
NM_004992.3(MECP2):c.1137C>T (p.Pro379=) rs61752980
NM_004992.3(MECP2):c.1138G>A (p.Val380Met) rs267608572
NM_004992.3(MECP2):c.1157_1197del (p.Leu386fs) rs267608327
NM_004992.3(MECP2):c.1161C>T (p.Pro387=) rs61750246
NM_004992.3(MECP2):c.1162C>T (p.Pro388Ser) rs61753000
NM_004992.3(MECP2):c.1164A>C (p.Pro388=) rs797044732
NM_004992.3(MECP2):c.1164_1207del (p.Pro388_Pro389insTer) rs61752992
NM_004992.3(MECP2):c.1166dup (p.Pro390fs) rs797044733
NM_004992.3(MECP2):c.1189G>A (p.Glu397Lys) rs56268439
NM_004992.3(MECP2):c.1197C>T (p.Pro399=) rs61753012
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.1315G>A (p.Ala439Thr) rs61753973
NM_004992.3(MECP2):c.1315G>T (p.Ala439Ser) rs61753973
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.1373G>A (p.Arg458His) rs185957513
NM_004992.3(MECP2):c.1374C>T (p.Arg458=) rs781825661
NM_004992.3(MECP2):c.1404G>A (p.Arg468=) rs267608633
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.1450_*24del (p.Arg484_Ter487del) rs1557134792
NM_004992.3(MECP2):c.210C>T (p.Ser70=) rs61754439
NM_004992.3(MECP2):c.251G>A (p.Arg84Gln) rs797044707
NM_004992.3(MECP2):c.316C>T (p.Arg106Trp) rs28934907
NM_004992.3(MECP2):c.378-10G>T rs1557137196
NM_004992.3(MECP2):c.378-17delT rs61753982
NM_004992.3(MECP2):c.378-4del rs1557137191
NM_004992.3(MECP2):c.381C>G (p.Pro127=) rs782752095
NM_004992.3(MECP2):c.397C>T (p.Arg133Cys) rs28934904
NM_004992.3(MECP2):c.419C>T (p.Ala140Val) rs28934908
NM_004992.3(MECP2):c.423C>G (p.Tyr141Ter) rs61748396
NM_004992.3(MECP2):c.426C>T (p.Phe142=) rs61748397
NM_004992.3(MECP2):c.438C>T (p.Gly146=) rs61748386
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.487G>T (p.Gly163Trp) rs1557136974
NM_004992.3(MECP2):c.502C>T (p.Arg168Ter) rs61748421
NM_004992.3(MECP2):c.527C>A (p.Pro176His) rs61749701
NM_004992.3(MECP2):c.528C>G (p.Pro176=) rs61754420
NM_004992.3(MECP2):c.54C>G (p.Leu18=) rs372500343
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.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.611C>G (p.Ser204Ter) rs61749724
NM_004992.3(MECP2):c.620T>C (p.Val207Ala) rs868943420
NM_004992.3(MECP2):c.660C>T (p.Leu220=) rs267608512
NM_004992.3(MECP2):c.683C>G (p.Thr228Ser) rs61749738
NM_004992.3(MECP2):c.691G>A (p.Gly231Arg) rs587783139
NM_004992.3(MECP2):c.695G>C (p.Gly232Ala) rs61748422
NM_004992.3(MECP2):c.701C>G (p.Ala234Gly) rs138211345
NM_004992.3(MECP2):c.730C>T (p.Gln244Ter) rs61749747
NM_004992.3(MECP2):c.753del (p.Gly252fs) rs61749751
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_004992.3(MECP2):c.777C>T (p.Ala259=) rs1042870
NM_004992.3(MECP2):c.806del (p.Gly269fs) rs61750241
NM_004992.3(MECP2):c.815C>T (p.Pro272Leu) rs61750243
NM_004992.3(MECP2):c.843C>T (p.Ala281=) rs61750252
NM_004992.3(MECP2):c.861C>T (p.Ala287=) rs139378224
NM_004992.3(MECP2):c.897C>T (p.Thr299=) rs61748423
NM_004992.3(MECP2):c.90G>A (p.Lys30=) rs398124187
NM_004992.3(MECP2):c.916C>T (p.Arg306Cys) rs28935468
NM_004992.3(MECP2):c.925C>T (p.Arg309Trp) rs61751444
NM_004992.3(MECP2):c.936C>T (p.Val312=) rs398124188
NM_004992.3(MECP2):c.942C>T (p.Ile314=) rs61751446
NM_004992.3(MECP2):c.953A>C (p.Glu318Ala) rs61751448
NM_004992.3(MECP2):c.984C>T (p.Leu328=) rs61751442

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.