ClinVar Miner

List of variants reported as benign for atypical Rett syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 367
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.413+266T>C rs2075596 0.84600
NM_001110792.2(MECP2):c.*878C>G rs3027924 0.17278
NM_001110792.2(MECP2):c.*1737G>A rs3027922 0.06002
NM_001110792.2(MECP2):c.414-109A>G rs3850326 0.04029
NM_001323289.2(CDKL5):c.2372A>C (p.Gln791Pro) rs35478150 0.03249
NM_000330.4(RS1):c.184+3207C>T rs35693326 0.02951
NM_001323289.2(CDKL5):c.555-19C>G rs75057928 0.02527
NM_001110792.2(MECP2):c.*4576A>C rs3027920 0.02376
NM_001110792.2(MECP2):c.*7748C>T rs3027917 0.02184
NM_005249.5(FOXG1):c.221C>A (p.Pro74Gln) rs796052452 0.01958
NM_001110792.2(MECP2):c.*7856A>C rs3027915 0.01876
NM_001110792.2(MECP2):c.1269C>T (p.Ser423=) rs3027928 0.01726
NM_001110792.2(MECP2):c.414-74C>T rs2071569 0.01484
NM_005249.5(FOXG1):c.1233G>A (p.Ala411=) rs34654108 0.00801
NM_001110792.2(MECP2):c.413+22C>G rs2075597 0.00778
NM_001110792.2(MECP2):c.*3878G>C rs148230889 0.00683
NM_001110792.2(MECP2):c.*489G>C rs111565519 0.00505
NM_001110792.2(MECP2):c.*328G>A rs62621673 0.00480
NM_001323289.2(CDKL5):c.1797C>G (p.Thr599=) rs141478957 0.00451
NM_001110792.2(MECP2):c.*3477G>A rs56036177 0.00360
NM_001323289.2(CDKL5):c.145+17A>G rs199814742 0.00355
NM_000330.4(RS1):c.184+3118C>T rs139155110 0.00352
NM_000330.4(RS1):c.184+3199G>A rs36022183 0.00345
NM_001110792.2(MECP2):c.*2956G>A rs267608358 0.00342
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439 0.00308
NM_001110792.2(MECP2):c.*2657G>A rs3027921 0.00301
NM_001110792.2(MECP2):c.413+28A>G rs185036026 0.00301
NM_001110792.2(MECP2):c.719C>G (p.Thr240Ser) rs61749738 0.00291
NM_001110792.2(MECP2):c.1371G>A (p.Thr457=) rs3027927 0.00256
NM_003159.3(CDKL5):c.2994C>T (p.Phe998=) rs150900695 0.00231
NM_001110792.2(MECP2):c.413+95G>A rs267608460 0.00223
NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=) rs150844616 0.00210
NM_001110792.2(MECP2):c.*544G>A rs183349022 0.00200
NM_001110792.2(MECP2):c.933C>T (p.Thr311=) rs61748423 0.00200
NM_001110792.2(MECP2):c.*861T>G rs187614438 0.00196
NM_001110792.2(MECP2):c.618C>T (p.Ser206=) rs61749711 0.00189
NM_001110792.2(MECP2):c.1071A>G (p.Lys357=) rs61752362 0.00157
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381 0.00150
NM_005249.5(FOXG1):c.447C>T (p.Ala149=) rs112803404 0.00126
NM_001110792.2(MECP2):c.246C>T (p.Ser82=) rs61754439 0.00119
NM_001110792.2(MECP2):c.*393G>A rs267608361 0.00111
NM_001323289.2(CDKL5):c.283-12T>C rs188879559 0.00110
NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser) rs61752387 0.00108
NM_001323289.2(CDKL5):c.2409G>A (p.Thr803=) rs145401225 0.00099
NM_001323289.2(CDKL5):c.2466C>G (p.Arg822=) rs146488512 0.00085
NM_001110792.2(MECP2):c.*554G>A rs267608353 0.00083
NM_001110792.2(MECP2):c.1233C>T (p.Pro411=) rs61753012 0.00081
NM_001110792.2(MECP2):c.*9G>A rs144008995 0.00080
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) rs61753975 0.00080
NM_001323289.2(CDKL5):c.2046+12del rs766762463 0.00076
NM_001110792.2(MECP2):c.*487G>C rs267608325 0.00073
NM_001110792.2(MECP2):c.*93G>A rs267608326 0.00072
NM_001110792.2(MECP2):c.644C>T (p.Thr215Met) rs61749720 0.00070
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met) rs61749714 0.00064
NM_001110792.2(MECP2):c.*371G>C rs187851059 0.00062
NM_005249.5(FOXG1):c.489C>T (p.Gly163=) rs375378714 0.00062
NM_001110792.2(MECP2):c.*1237T>C rs267608365 0.00059
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517 0.00059
NM_005249.5(FOXG1):c.206C>A (p.Pro69Gln) rs727503933 0.00057
NM_001110792.2(MECP2):c.414-61C>G rs191076920 0.00056
NM_001110792.2(MECP2):c.*1368C>A rs267608355 0.00050
NM_001110792.2(MECP2):c.879C>T (p.Ala293=) rs61750252 0.00050
NM_001323289.2(CDKL5):c.2022C>G (p.Ser674=) rs763419895 0.00050
NM_005249.5(FOXG1):c.503G>C (p.Gly168Ala) rs148157138 0.00048
NM_001110792.2(MECP2):c.855G>T (p.Gly285=) rs61750245 0.00046
NM_001110792.2(MECP2):c.885C>G (p.Ala295=) rs61750253 0.00042
NM_001110792.2(MECP2):c.870C>T (p.Ala290=) rs61750248 0.00041
NM_001110792.2(MECP2):c.*3662A>G rs267608366 0.00038
NM_001110792.2(MECP2):c.*14G>A rs199963992 0.00037
NM_001110792.2(MECP2):c.312A>G (p.Gly104=) rs140191561 0.00035
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser) rs61749713 0.00034
NM_001110792.2(MECP2):c.978C>T (p.Ile326=) rs61751446 0.00034
NM_001323289.2(CDKL5):c.1338A>T (p.Ser446=) rs139329419 0.00033
NM_001110792.2(MECP2):c.1108G>A (p.Ala370Thr) rs147017239 0.00030
NM_005249.5(FOXG1):c.245C>A (p.Pro82Gln) rs796052453 0.00030
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=) rs143992148 0.00029
NM_001323289.2(CDKL5):c.1548C>T (p.Tyr516=) rs751789670 0.00029
NM_005249.5(FOXG1):c.201G>T (p.Pro67=) rs587780944 0.00029
NM_001110792.2(MECP2):c.813C>T (p.Ala271=) rs1042870 0.00028
NM_005249.5(FOXG1):c.209A>C (p.Gln70Pro) rs587783633 0.00026
NM_001110792.2(MECP2):c.*5348T>C rs267608346 0.00025
NM_001323289.2(CDKL5):c.2652C>T (p.Gly884=) rs201473442 0.00024
NM_005249.5(FOXG1):c.1323C>T (p.Ser441=) rs144434028 0.00023
NM_001110792.2(MECP2):c.*363G>C rs62621675 0.00022
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met) rs267608572 0.00022
NM_001110792.2(MECP2):c.876C>T (p.Ala292=) rs61750251 0.00022
NM_001110792.2(MECP2):c.1020C>T (p.Leu340=) rs61751442 0.00021
NM_001323289.2(CDKL5):c.2445C>T (p.Ser815=) rs371902632 0.00021
NM_005249.5(FOXG1):c.181C>T (p.Pro61Ser) rs762634382 0.00021
NM_001110792.2(MECP2):c.*2556T>A rs267608356 0.00020
NM_001110792.2(MECP2):c.1173C>T (p.Pro391=) rs61752980 0.00020
NM_001110792.2(MECP2):c.462C>T (p.Phe154=) rs61748397 0.00020
NM_001323289.2(CDKL5):c.2276+12G>C rs372909446 0.00020
NM_005249.5(FOXG1):c.456G>T (p.Gly152=) rs587783637 0.00020
NM_001110792.2(MECP2):c.1224C>T (p.Ser408=) rs781816931 0.00019
NM_001110792.2(MECP2):c.1242C>T (p.Pro414=) rs63586860 0.00019
NM_001110792.2(MECP2):c.722C>T (p.Ser241Leu) rs61749739 0.00019
NM_001110792.2(MECP2):c.429C>G (p.Ala143=) rs61748385 0.00018
NM_001323289.2(CDKL5):c.180G>A (p.Glu60=) rs148697943 0.00018
NM_001110792.2(MECP2):c.621C>T (p.Gly207=) rs61749712 0.00017
NM_001110792.2(MECP2):c.1176G>A (p.Val392=) rs201711454 0.00015
NM_001110792.2(MECP2):c.1362C>T (p.Thr454=) rs61751363 0.00015
NM_001110792.2(MECP2):c.1409G>A (p.Arg470His) rs185957513 0.00015
NM_005249.5(FOXG1):c.218A>C (p.Gln73Pro) rs760663911 0.00015
NM_001110792.2(MECP2):c.*359G>C rs62621674 0.00014
NM_001110792.2(MECP2):c.*55C>G rs267608344 0.00014
NM_001323289.2(CDKL5):c.1330C>T (p.Arg444Cys) rs61753977 0.00014
NM_001110792.2(MECP2):c.789C>T (p.Pro263=) rs63582063 0.00013
NM_001323289.2(CDKL5):c.464-9A>G rs374030184 0.00013
NM_003159.3(CDKL5):c.2797+19A>G rs375809338 0.00013
NM_001110792.2(MECP2):c.1032C>T (p.Ser344=) rs148744894 0.00012
NM_001110792.2(MECP2):c.669G>C (p.Arg223Ser) rs61749731 0.00012
NM_001323289.2(CDKL5):c.1892T>C (p.Ile631Thr) rs144878564 0.00012
NM_005249.5(FOXG1):c.*4C>T rs774917687 0.00012
NM_001110792.2(MECP2):c.1318G>A (p.Gly440Ser) rs61753971 0.00011
NM_001323289.2(CDKL5):c.283-13A>G rs587783404 0.00011
NM_001110792.2(MECP2):c.*3658C>T rs267608359 0.00010
NM_001110792.2(MECP2):c.1196C>T (p.Pro399Leu) rs63390262 0.00010
NM_001110792.2(MECP2):c.204C>T (p.Pro68=) rs61754435 0.00010
NM_001110792.2(MECP2):c.639G>A (p.Ala213=) rs267608504 0.00010
NM_001110792.2(MECP2):c.731G>C (p.Gly244Ala) rs61748422 0.00010
NM_001323289.2(CDKL5):c.2157A>T (p.Pro719=) rs200333632 0.00010
NM_001323289.2(CDKL5):c.2200A>G (p.Thr734Ala) rs55803460 0.00010
NM_005249.5(FOXG1):c.594C>G (p.Pro198=) rs141088742 0.00010
NM_001110792.2(MECP2):c.1216G>A (p.Glu406Lys) rs63094662 0.00009
NM_001110792.2(MECP2):c.1270G>A (p.Val424Ile) rs61753966 0.00009
NM_001110792.2(MECP2):c.1363G>A (p.Ala455Thr) rs193922677 0.00009
NM_001110792.2(MECP2):c.1375G>A (p.Ala459Thr) rs267608626 0.00009
NM_001110792.2(MECP2):c.653G>C (p.Gly218Ala) rs63485860 0.00009
NM_001110792.2(MECP2):c.756C>T (p.Thr252=) rs61749746 0.00009
NM_001110792.2(MECP2):c.851C>T (p.Pro284Leu) rs61750243 0.00009
NM_001323289.2(CDKL5):c.1523T>C (p.Ile508Thr) rs201893287 0.00009
NM_001110792.2(MECP2):c.1473G>A (p.Thr491=) rs587781033 0.00008
NM_001110792.2(MECP2):c.551C>T (p.Pro184Leu) rs267608491 0.00008
NM_000330.4(RS1):c.185-3134G>A rs202153551 0.00007
NM_001110792.2(MECP2):c.1096C>T (p.Arg366Cys) rs143876280 0.00007
NM_001110792.2(MECP2):c.1197C>T (p.Pro399=) rs61750246 0.00007
NM_001110792.2(MECP2):c.1251C>T (p.Pro417=) rs61753964 0.00007
NM_001323289.2(CDKL5):c.1527G>A (p.Ala509=) rs369561849 0.00007
NM_001323289.2(CDKL5):c.1818A>G (p.Gln606=) rs587783154 0.00007
NM_001323289.2(CDKL5):c.2256A>G (p.Arg752=) rs770193102 0.00007
NM_003159.3(CDKL5):c.2797+16C>T rs778757202 0.00007
NC_000023.11:g.18646008C>T rs201714912 0.00006
NM_001110792.2(MECP2):c.1066C>T (p.Arg356Trp) rs61752361 0.00006
NM_001110792.2(MECP2):c.1107C>T (p.Ser369=) rs61750236 0.00006
NM_001110792.2(MECP2):c.1171C>T (p.Pro391Ser) rs782050077 0.00006
NM_001110792.2(MECP2):c.1198C>T (p.Pro400Ser) rs61753000 0.00006
NM_001110792.2(MECP2):c.414-20C>G rs368684221 0.00006
NM_001110792.2(MECP2):c.737C>G (p.Ala246Gly) rs138211345 0.00006
NM_001110792.2(MECP2):c.90C>G (p.Leu30=) rs372500343 0.00006
NM_001323289.2(CDKL5):c.1721C>T (p.Pro574Leu) rs199897804 0.00006
NM_003159.3(CDKL5):c.2909G>A (p.Arg970Gln) rs570887192 0.00006
NM_005249.5(FOXG1):c.376G>A (p.Gly126Ser) rs796052455 0.00006
NM_001110792.2(MECP2):c.*177G>C rs267608345 0.00005
NM_001110792.2(MECP2):c.1111T>C (p.Ser371Pro) rs61752371 0.00005
NM_001110792.2(MECP2):c.1232C>T (p.Pro411Leu) rs62915962 0.00005
NM_001110792.2(MECP2):c.1485G>C (p.Glu495Asp) rs267608336 0.00005
NM_001110792.2(MECP2):c.510G>A (p.Thr170=) rs61748413 0.00005
NM_001110792.2(MECP2):c.563C>G (p.Pro188Arg) rs61749701 0.00005
NM_001110792.2(MECP2):c.696C>T (p.Leu232=) rs267608512 0.00005
NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser) rs748459878 0.00005
NM_001323289.2(CDKL5):c.2265A>T (p.Ala755=) rs727503846 0.00005
NM_001323289.2(CDKL5):c.283-14T>C rs776132140 0.00005
NM_001323289.2(CDKL5):c.64+19G>A rs776988929 0.00005
NM_001323289.2(CDKL5):c.950A>G (p.His317Arg) rs756537286 0.00005
NM_000330.4(RS1):c.326+1131G>A rs267608664 0.00004
NM_001110792.2(MECP2):c.1021G>A (p.Gly341Ser) rs201871183 0.00004
NM_001110792.2(MECP2):c.1250C>T (p.Pro417Leu) rs61753016 0.00004
NM_001110792.2(MECP2):c.1302C>T (p.Gly434=) rs61753970 0.00004
NM_001110792.2(MECP2):c.877G>A (p.Ala293Thr) rs782239416 0.00004
NM_001110792.2(MECP2):c.915C>G (p.Ile305Met) rs587783140 0.00004
NM_001323289.2(CDKL5):c.2389G>A (p.Asp797Asn) rs140313320 0.00004
NM_001323289.2(CDKL5):c.93A>G (p.Arg31=) rs140332992 0.00004
NM_005249.5(FOXG1):c.1273T>C (p.Ser425Pro) rs780242359 0.00004
NM_005249.5(FOXG1):c.251C>A (p.Pro84His) rs866815665 0.00004
NM_005249.5(FOXG1):c.455G>C (p.Gly152Ala) rs796052460 0.00004
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser) rs140258520 0.00003
NM_001110792.2(MECP2):c.1352C>T (p.Ala451Val) rs782805738 0.00003
NM_001110792.2(MECP2):c.260C>T (p.Pro87Leu) rs267608440 0.00003
NM_001110792.2(MECP2):c.414-3C>T rs267608465 0.00003
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met) rs61751445 0.00003
NM_001323289.2(CDKL5):c.1526C>T (p.Ala509Val) rs779325312 0.00003
NM_001323289.2(CDKL5):c.2497-17C>T rs780795025 0.00003
NM_001323289.2(CDKL5):c.249A>G (p.Gly83=) rs764954859 0.00003
NM_001323289.2(CDKL5):c.282+19A>G rs781452978 0.00003
NC_000023.11:g.18650483A>G rs765535216 0.00002
NM_000330.4(RS1):c.185-3207G>A rs587783161 0.00002
NM_001110792.2(MECP2):c.1117C>G (p.Pro373Ala) rs61752373 0.00002
NM_001110792.2(MECP2):c.1324C>T (p.Pro442Ser) rs267608622 0.00002
NM_001110792.2(MECP2):c.1487G>C (p.Arg496Thr) rs267608370 0.00002
NM_001110792.2(MECP2):c.414-6C>G rs782482746 0.00002
NM_001110792.2(MECP2):c.414-70C>G rs782440655 0.00002
NM_001110792.2(MECP2):c.645G>A (p.Thr215=) rs61749722 0.00002
NM_001110792.2(MECP2):c.702C>G (p.Val234=) rs61749735 0.00002
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=) rs756986206 0.00002
NM_001323289.2(CDKL5):c.1098C>T (p.Phe366=) rs777079786 0.00002
NM_001323289.2(CDKL5):c.194G>A (p.Arg65Gln) rs267608436 0.00002
NM_001323289.2(CDKL5):c.2581C>T (p.Pro861Ser) rs1430214724 0.00002
NM_001323289.2(CDKL5):c.886A>G (p.Thr296Ala) rs751995225 0.00002
NM_003159.3(CDKL5):c.2867G>A (p.Arg956His) rs376557374 0.00002
NM_005249.5(FOXG1):c.418G>A (p.Val140Ile) rs1400545711 0.00002
NM_000330.4(RS1):c.185-3137C>A rs767312604 0.00001
NM_000330.4(RS1):c.185-3176C>T rs747799506 0.00001
NM_001110792.2(MECP2):c.*8C>T rs267608330 0.00001
NM_001110792.2(MECP2):c.1199C>T (p.Pro400Leu) rs61753006 0.00001
NM_001110792.2(MECP2):c.1240C>A (p.Pro414Thr) rs150146088 0.00001
NM_001110792.2(MECP2):c.1275C>T (p.Cys425=) rs61753967 0.00001
NM_001110792.2(MECP2):c.1320C>T (p.Gly440=) rs267608621 0.00001
NM_001110792.2(MECP2):c.1474C>T (p.Pro492Ser) rs267608636 0.00001
NM_001110792.2(MECP2):c.301C>T (p.Arg101Cys) rs782601477 0.00001
NM_001110792.2(MECP2):c.474C>T (p.Gly158=) rs61748386 0.00001
NM_001110792.2(MECP2):c.55G>A (p.Glu19Lys) rs782789719 0.00001
NM_001110792.2(MECP2):c.62+5380C>T rs267608324 0.00001
NM_001110792.2(MECP2):c.633C>G (p.Pro211=) rs782619288 0.00001
NM_001110792.2(MECP2):c.831C>G (p.Pro277=) rs267608527 0.00001
NM_001110792.2(MECP2):c.846A>G (p.Arg282=) rs782743949 0.00001
NM_001110792.2(MECP2):c.860T>C (p.Val287Ala) rs143989769 0.00001
NM_001323289.2(CDKL5):c.1088A>G (p.Asn363Ser) rs755167459 0.00001
NM_001323289.2(CDKL5):c.1278A>C (p.Ser426=) rs267608620 0.00001
NM_001323289.2(CDKL5):c.1422C>T (p.Pro474=) rs773921712 0.00001
NM_001323289.2(CDKL5):c.1722G>A (p.Pro574=) rs371603866 0.00001
NM_001323289.2(CDKL5):c.1767C>T (p.His589=) rs267608645 0.00001
NM_001323289.2(CDKL5):c.2152+10C>G rs763466606 0.00001
NM_001323289.2(CDKL5):c.2541G>A (p.Ser847=) rs781774964 0.00001
NM_001323289.2(CDKL5):c.2680G>A (p.Ala894Thr) rs763110247 0.00001
NM_001323289.2(CDKL5):c.463+8A>G rs769244237 0.00001
NM_001323289.2(CDKL5):c.554+11G>A rs267608498 0.00001
NM_001323289.2(CDKL5):c.915T>C (p.Arg305=) rs1170498240 0.00001
NM_001323289.2(CDKL5):c.967T>C (p.Leu323=) rs527360143 0.00001
NM_003159.3(CDKL5):c.2980+20C>T rs181859624 0.00001
NM_005249.5(FOXG1):c.1058A>G (p.Asn353Ser) rs749879411 0.00001
NM_005249.5(FOXG1):c.107G>A (p.Ser36Asn) rs1881775466 0.00001
NM_005249.5(FOXG1):c.1384A>G (p.Ser462Gly) rs752379833 0.00001
NM_005249.5(FOXG1):c.256C>A (p.Gln86Lys) rs398124202 0.00001
NM_005249.5(FOXG1):c.275C>T (p.Ala92Val) rs1057520147 0.00001
NM_005249.5(FOXG1):c.308T>A (p.Leu103Gln) rs1276635464 0.00001
NM_005249.5(FOXG1):c.367G>C (p.Gly123Arg) rs758610493 0.00001
NM_005249.5(FOXG1):c.378C>T (p.Gly126=) rs572031458 0.00001
NM_005249.5(FOXG1):c.382G>T (p.Gly128Cys) rs1029176730 0.00001
NM_005249.5(FOXG1):c.457G>T (p.Gly153Trp) rs1881797133 0.00001
NC_000023.11:g.18650479G>T
NC_000023.11:g.18650611C>T
NC_000023.11:g.18650612C>G
NC_000023.11:g.18653413G>A
NM_000330.4(RS1):c.185-3110G>T
NM_000330.4(RS1):c.185-3260C>T rs866859766
NM_001110792.2(MECP2):c.*156G>T
NM_001110792.2(MECP2):c.*2706G>A rs267608357
NM_001110792.2(MECP2):c.*3638A>G
NM_001110792.2(MECP2):c.*529G>T rs267608362
NM_001110792.2(MECP2):c.*5478AT[6] rs202139104
NM_001110792.2(MECP2):c.*8503del rs267608360
NM_001110792.2(MECP2):c.*8503dup rs267608360
NM_001110792.2(MECP2):c.*98dup rs267608341
NM_001110792.2(MECP2):c.-31AG[2] rs587783128
NM_001110792.2(MECP2):c.1020C>A (p.Leu340=) rs61751442
NM_001110792.2(MECP2):c.1042C>G (p.Leu348Val) rs587783104
NM_001110792.2(MECP2):c.1097G>A (p.Arg366His) rs61748387
NM_001110792.2(MECP2):c.1134CCA[1] (p.His383_His384del) rs61752381
NM_001110792.2(MECP2):c.1165_1234del (p.Lys389fs) rs1557135353
NM_001110792.2(MECP2):c.1169C>T (p.Ala390Val) rs201314910
NM_001110792.2(MECP2):c.1191_1202del (p.Leu398_Pro401del) rs782174572
NM_001110792.2(MECP2):c.1197C>A (p.Pro399=)
NM_001110792.2(MECP2):c.1197_1202del (p.Pro402_Pro403del) rs267608332
NM_001110792.2(MECP2):c.1198C>G (p.Pro400Ala) rs61753000
NM_001110792.2(MECP2):c.1198CCACCT[1] (p.Pro402_Pro403del) rs61753008
NM_001110792.2(MECP2):c.1200A>C (p.Pro400=) rs797044732
NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu) rs61753014
NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr) rs61753973
NM_001110792.2(MECP2):c.1351G>T (p.Ala451Ser) rs61753973
NM_001110792.2(MECP2):c.1362_1370del (p.454TAA[1]) rs267608404
NM_001110792.2(MECP2):c.1455G>C (p.Glu485Asp) rs75498268
NM_001110792.2(MECP2):c.191A>G (p.His64Arg) rs61754433
NM_001110792.2(MECP2):c.33AGG[6] (p.Gly16dup) rs587783744
NM_001110792.2(MECP2):c.33AGG[7] (p.Gly15_Gly16dup) rs587783744
NM_001110792.2(MECP2):c.414-17del rs61753982
NM_001110792.2(MECP2):c.414-241C>T rs3027931
NM_001110792.2(MECP2):c.414-65C>G
NM_001110792.2(MECP2):c.62+14626C>T
NM_001110792.2(MECP2):c.62+21995G>T
NM_001110792.2(MECP2):c.62+5503del rs372915987
NM_001110792.2(MECP2):c.63-13972A>T
NM_001110792.2(MECP2):c.63-27438T>G
NM_001110792.2(MECP2):c.632C>A (p.Pro211His) rs267608502
NM_001110792.2(MECP2):c.6CGC[3] (p.Ala6_Ala8del) rs398123566
NM_001110792.2(MECP2):c.6CGC[4] (p.Ala7_Ala8del) rs398123566
NM_001110792.2(MECP2):c.6CGC[7] (p.Ala8dup) rs398123566
NM_001110792.2(MECP2):c.6CGC[8] (p.Ala7_Ala8dup) rs398123566
NM_001110792.2(MECP2):c.6CGC[9] (p.Ala6_Ala8dup) rs398123566
NM_001110792.2(MECP2):c.717A>C (p.Gln239His)
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.942C>G (p.Pro314=) rs61751438
NM_001323289.2(CDKL5):c.1382A>T (p.Asn461Ile) rs267608629
NM_001323289.2(CDKL5):c.145+4_145+5dup rs776844003
NM_001323289.2(CDKL5):c.145+5AT[10] rs745969938
NM_001323289.2(CDKL5):c.145+5AT[11] rs745969938
NM_001323289.2(CDKL5):c.145+5AT[13] rs745969938
NM_001323289.2(CDKL5):c.145+5AT[14] rs745969938
NM_001323289.2(CDKL5):c.1463G>C (p.Ser488Thr)
NM_001323289.2(CDKL5):c.1689A>C (p.Arg563Ser)
NM_001323289.2(CDKL5):c.1700C>T (p.Thr567Met)
NM_001323289.2(CDKL5):c.1745C>T (p.Ser582Phe) rs1378912528
NM_001323289.2(CDKL5):c.2103A>G (p.Arg701=)
NM_001323289.2(CDKL5):c.2152+18A>G
NM_001323289.2(CDKL5):c.2153-18T>G
NM_001323289.2(CDKL5):c.2215C>T (p.Leu739=) rs747554139
NM_001323289.2(CDKL5):c.2277-13T>C
NM_001323289.2(CDKL5):c.2355_2357del (p.Lys789del)
NM_001323289.2(CDKL5):c.2497-3C>T
NM_001323289.2(CDKL5):c.2570C>G (p.Pro857Arg)
NM_001323289.2(CDKL5):c.2666T>G (p.Ile889Ser)
NM_001323289.2(CDKL5):c.2677C>T (p.Pro893Ser)
NM_001323289.2(CDKL5):c.2706G>T (p.Gln902His)
NM_001323289.2(CDKL5):c.573C>G (p.Ser191=) rs786204958
NM_001323289.2(CDKL5):c.573C>T (p.Ser191=)
NM_001323289.2(CDKL5):c.977+7A>G rs770011012
NM_003159.3(CDKL5):c.2714-10del
NM_005249.5(FOXG1):c.1003C>T (p.Pro335Ser)
NM_005249.5(FOXG1):c.1029C>T (p.Ser343=)
NM_005249.5(FOXG1):c.1047G>A (p.Ser349=)
NM_005249.5(FOXG1):c.1086G>A (p.Leu362=) rs570981209
NM_005249.5(FOXG1):c.115C>T (p.His39Tyr)
NM_005249.5(FOXG1):c.1219G>C (p.Val407Leu) rs1287203413
NM_005249.5(FOXG1):c.1221C>T (p.Val407=)
NM_005249.5(FOXG1):c.1255C>T (p.Pro419Ser) rs2138662170
NM_005249.5(FOXG1):c.1347G>A (p.Ser449=)
NM_005249.5(FOXG1):c.1381C>G (p.Pro461Ala) rs1881826897
NM_005249.5(FOXG1):c.1390A>G (p.Thr464Ala) rs1268719113
NM_005249.5(FOXG1):c.141CCA[4] (p.His55_His57del) rs587783630
NM_005249.5(FOXG1):c.141CCA[6] (p.His57del) rs587783630
NM_005249.5(FOXG1):c.1443G>A (p.Gly481=)
NM_005249.5(FOXG1):c.183_203dup (p.Pro68_Pro69insAlaProGlnProProProPro)
NM_005249.5(FOXG1):c.187C>T (p.Pro63Ser) rs1288532385
NM_005249.5(FOXG1):c.194CGC[6] (p.Pro69dup) rs761703699
NM_005249.5(FOXG1):c.209AGC[5] (p.Gln73dup) rs398124201
NM_005249.5(FOXG1):c.209_229del (p.Gln70_Pro76del) rs1466028633
NM_005249.5(FOXG1):c.209_232del (p.Gln70_Pro77del) rs794726920
NM_005249.5(FOXG1):c.209_235del (p.Gln70_Pro78del) rs587783634
NM_005249.5(FOXG1):c.209_235dup (p.Gln70_Pro78dup) rs587783634
NM_005249.5(FOXG1):c.219GCC[7] (p.Pro80dup) rs786200975
NM_005249.5(FOXG1):c.21G>A (p.Arg7=)
NM_005249.5(FOXG1):c.227C>T (p.Pro76Leu) rs1381438340
NM_005249.5(FOXG1):c.237_239del (p.Pro80del)
NM_005249.5(FOXG1):c.241G>A (p.Ala81Thr) rs1240859292
NM_005249.5(FOXG1):c.251C>G (p.Pro84Arg) rs866815665
NM_005249.5(FOXG1):c.251C>T (p.Pro84Leu) rs866815665
NM_005249.5(FOXG1):c.256C>G (p.Gln86Glu) rs398124202
NM_005249.5(FOXG1):c.263G>C (p.Arg88Pro)
NM_005249.5(FOXG1):c.268G>T (p.Ala90Ser) rs906816341
NM_005249.5(FOXG1):c.310C>G (p.Leu104Val)
NM_005249.5(FOXG1):c.322C>T (p.Pro108Ser) rs1881790056
NM_005249.5(FOXG1):c.329C>A (p.Pro110Gln)
NM_005249.5(FOXG1):c.344C>T (p.Ala115Val) rs796052454
NM_005249.5(FOXG1):c.362C>G (p.Ala121Gly) rs2138660693
NM_005249.5(FOXG1):c.443G>A (p.Gly148Asp) rs781726187
NM_005249.5(FOXG1):c.443G>C (p.Gly148Ala)
NM_005249.5(FOXG1):c.453C>G (p.Ala151=)
NM_005249.5(FOXG1):c.454G>A (p.Gly152Arg) rs1365260962
NM_005249.5(FOXG1):c.454G>T (p.Gly152Trp)
NM_005249.5(FOXG1):c.475G>A (p.Ala159Thr)
NM_005249.5(FOXG1):c.672C>G (p.Gly224=) rs587783639
NM_005249.5(FOXG1):c.672C>T (p.Gly224=)
NM_005249.5(FOXG1):c.933G>A (p.Ser311=)
NM_005249.5(FOXG1):c.977G>A (p.Ser326Asn) rs748001255
NM_005249.5(FOXG1):c.987C>A (p.Gly329=)
NM_005249.5(FOXG1):c.991A>G (p.Thr331Ala)

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