ClinVar Miner

List of variants in gene MECP2 reported as benign for Severe neonatal-onset encephalopathy with microcephaly

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Total variants: 73
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HGVS dbSNP
NM_001110792.1(MECP2):c.45_47dupAGG (p.Gly16dup) rs587783744
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.1071A>G (p.Lys357=) rs61752362
NM_001110792.2(MECP2):c.1107C>T (p.Ser369=) rs61750236
NM_001110792.2(MECP2):c.1108G>A (p.Ala370Thr) rs147017239
NM_001110792.2(MECP2):c.1117C>G (p.Pro373Ala) rs61752373
NM_001110792.2(MECP2):c.1120C>G (p.Pro374Ala) rs782171742
NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser) rs61752387
NM_001110792.2(MECP2):c.1173C>T (p.Pro391=) rs61752980
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met) rs267608572
NM_001110792.2(MECP2):c.1176G>A (p.Val392=) rs201711454
NM_001110792.2(MECP2):c.1196C>T (p.Pro399Leu) rs63390262
NM_001110792.2(MECP2):c.1197C>T (p.Pro399=) rs61750246
NM_001110792.2(MECP2):c.1198C>G (p.Pro400Ala) rs61753000
NM_001110792.2(MECP2):c.1198C>T (p.Pro400Ser) rs61753000
NM_001110792.2(MECP2):c.1221C>T (p.Ser407=) rs782775618
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.1233C>T (p.Pro411=) rs61753012
NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu) rs61753014
NM_001110792.2(MECP2):c.1242C>T (p.Pro414=) rs63586860
NM_001110792.2(MECP2):c.1250C>T (p.Pro417Leu) rs61753016
NM_001110792.2(MECP2):c.1251C>T (p.Pro417=) rs61753964
NM_001110792.2(MECP2):c.1269C>T (p.Ser423=) rs3027928
NM_001110792.2(MECP2):c.1269_1270delinsTT (p.Val424Phe)
NM_001110792.2(MECP2):c.1270G>A (p.Val424Ile) rs61753966
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser) rs140258520
NM_001110792.2(MECP2):c.1318G>A (p.Gly440Ser) rs61753971
NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr) rs61753973
NM_001110792.2(MECP2):c.1353G>A (p.Ala451=) rs146632223
NM_001110792.2(MECP2):c.1362C>T (p.Thr454=) rs61751363
NM_001110792.2(MECP2):c.1363G>A (p.Ala455Thr) rs193922677
NM_001110792.2(MECP2):c.1365C>T (p.Ala455=) rs782706777
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.1375G>A (p.Ala459Thr) rs267608626
NM_001110792.2(MECP2):c.1409G>A (p.Arg470His) rs185957513
NM_001110792.2(MECP2):c.1473G>A (p.Thr491=) rs587781033
NM_001110792.2(MECP2):c.204C>T (p.Pro68=) rs61754435
NM_001110792.2(MECP2):c.246C>T (p.Ser82=) rs61754439
NM_001110792.2(MECP2):c.281A>G (p.Lys94Arg) rs61754444
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517
NM_001110792.2(MECP2):c.414-3C>T rs267608465
NM_001110792.2(MECP2):c.462C>T (p.Phe154=) rs61748397
NM_001110792.2(MECP2):c.531C>T (p.Pro177=) rs376821032
NM_001110792.2(MECP2):c.618C>T (p.Ser206=) rs61749711
NM_001110792.2(MECP2):c.621C>T (p.Gly207=) rs61749712
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.645G>A (p.Thr215=) rs61749722
NM_001110792.2(MECP2):c.669G>C (p.Arg223Ser) rs61749731
NM_001110792.2(MECP2):c.6_8CGC[7] (p.Ala8dup) rs398123566
NM_001110792.2(MECP2):c.6_8CGC[8] (p.Ala7_Ala8dup) rs398123566
NM_001110792.2(MECP2):c.702C>G (p.Val234=) rs61749735
NM_001110792.2(MECP2):c.719C>G (p.Thr240Ser) rs61749738
NM_001110792.2(MECP2):c.722C>T (p.Ser241Leu) rs61749739
NM_001110792.2(MECP2):c.731G>C (p.Gly244Ala) rs61748422
NM_001110792.2(MECP2):c.771C>G (p.Val257=) rs782027467
NM_001110792.2(MECP2):c.786C>A (p.Arg262=) rs61748424
NM_001110792.2(MECP2):c.786C>T (p.Arg262=) rs61748424
NM_001110792.2(MECP2):c.789C>T (p.Pro263=) rs63582063
NM_001110792.2(MECP2):c.813C>T (p.Ala271=) rs1042870
NM_001110792.2(MECP2):c.855G>T (p.Gly285=) rs61750245
NM_001110792.2(MECP2):c.870C>T (p.Ala290=) rs61750248
NM_001110792.2(MECP2):c.876C>T (p.Ala292=) rs61750251
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.897C>T (p.Ala299=) rs139378224
NM_001110792.2(MECP2):c.933C>T (p.Thr311=) rs61748423
NM_001110792.2(MECP2):c.978C>T (p.Ile326=) rs61751446

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