ClinVar Miner

List of variants reported as benign for Mendelian encephalopathy by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (29):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 289
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006267.5(RANBP2):c.8253G>A (p.Glu2751=) rs826580 0.98805
NC_000003.12:g.167735251T>C rs9853967 0.42069
NM_006267.5(RANBP2):c.637-18G>A rs826577 0.37494
NM_006267.5(RANBP2):c.405+17T>G rs826526 0.36773
NM_006267.5(RANBP2):c.2550A>G (p.Ser850=) rs826549 0.35436
NC_000003.12:g.167735203T>C rs11714980 0.26406
NM_014297.5(ETHE1):c.6G>A (p.Ala2=) rs3810381 0.17604
NM_006267.5(RANBP2):c.1456-7A>G rs144029181 0.15939
NM_001122752.2(SERPINI1):c.21C>G (p.Phe7Leu) rs33917740 0.13145
NM_001122752.2(SERPINI1):c.576G>A (p.Ser192=) rs2229697 0.13143
NM_001122752.2(SERPINI1):c.51A>G (p.Thr17=) rs34582040 0.12694
NM_006267.5(RANBP2):c.4443A>G (p.Gly1481=) rs61748149 0.05119
NM_006267.5(RANBP2):c.9585C>T (p.Gly3195=) rs10185197 0.04909
NM_006267.5(RANBP2):c.72+11C>G rs113447280 0.04653
NM_006267.5(RANBP2):c.6609G>A (p.Ala2203=) rs60199637 0.04502
NM_006267.5(RANBP2):c.2562A>G (p.Gly854=) rs13426055 0.02567
NM_006267.5(RANBP2):c.3597G>A (p.Ala1199=) rs17036806 0.02270
NM_006267.5(RANBP2):c.2330A>G (p.His777Arg) rs61748146 0.02199
NM_014297.5(ETHE1):c.61G>T (p.Ala21Ser) rs116440799 0.01865
NM_001110792.2(MECP2):c.1269C>T (p.Ser423=) rs3027928 0.01805
NM_006267.5(RANBP2):c.1064-13A>T rs192629843 0.01429
NM_006267.5(RANBP2):c.8600-14G>T rs57063709 0.01326
NM_006267.5(RANBP2):c.8253= (p.Glu2751=) rs826580 0.01292
NM_006267.5(RANBP2):c.2559T>A (p.Asp853Glu) rs148999619 0.01261
NM_001122752.2(SERPINI1):c.838G>A (p.Ala280Thr) rs55872908 0.01095
NM_006267.5(RANBP2):c.816G>C (p.Leu272Phe) rs76352345 0.01093
NM_006267.5(RANBP2):c.1209C>T (p.Ser403=) rs140275032 0.00951
NM_006267.5(RANBP2):c.1632-16T>C rs147266881 0.00887
NM_006267.5(RANBP2):c.2173A>G (p.Ser725Gly) rs17414315 0.00881
NM_006267.5(RANBP2):c.5941T>A (p.Ser1981Thr) rs61748150 0.00820
NM_006267.5(RANBP2):c.3411A>C (p.Pro1137=) rs76461420 0.00790
NM_006267.5(RANBP2):c.2351G>A (p.Arg784Lys) rs2912838 0.00684
NM_001122752.2(SERPINI1):c.881+10T>G rs113533056 0.00651
NM_006267.5(RANBP2):c.1087C>T (p.Arg363Cys) rs149207118 0.00617
NM_001122752.2(SERPINI1):c.250+13A>G rs77880879 0.00608
NM_006267.5(RANBP2):c.7849+4A>G rs2949961 0.00502
NM_006267.5(RANBP2):c.2339C>T (p.Pro780Leu) rs61758802 0.00497
NM_006267.5(RANBP2):c.2955G>A (p.Pro985=) rs61748147 0.00495
NM_006267.5(RANBP2):c.5307G>A (p.Lys1769=) rs76221103 0.00493
NM_006267.5(RANBP2):c.4726A>T (p.Thr1576Ser) rs74821091 0.00490
NM_006267.5(RANBP2):c.2982A>T (p.Ala994=) rs61748148 0.00486
NM_006267.5(RANBP2):c.3033G>A (p.Pro1011=) rs78215631 0.00478
NM_006267.5(RANBP2):c.7754T>C (p.Ile2585Thr) rs145886643 0.00475
NM_006267.5(RANBP2):c.728T>C (p.Met243Thr) rs139151870 0.00457
NM_006267.5(RANBP2):c.73-6T>A rs201485597 0.00423
NM_006267.5(RANBP2):c.1274-14T>A rs201447069 0.00399
NM_014297.5(ETHE1):c.227-9C>G rs199921503 0.00367
NM_001122752.2(SERPINI1):c.289G>A (p.Val97Ile) rs61750375 0.00357
NM_001122752.2(SERPINI1):c.297T>G (p.Ala99=) rs61761891 0.00319
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439 0.00308
NM_001122752.2(SERPINI1):c.518A>G (p.Asp173Gly) rs61735309 0.00308
NM_001122752.2(SERPINI1):c.482-20A>G rs2420038 0.00299
NM_006267.5(RANBP2):c.3162G>T (p.Gln1054His) rs141230513 0.00292
NM_006267.5(RANBP2):c.3163C>T (p.Pro1055Ser) rs140860785 0.00290
NM_001110792.2(MECP2):c.719C>G (p.Thr240Ser) rs61749738 0.00281
NM_006267.5(RANBP2):c.7850-6T>G rs183569993 0.00273
NM_006267.5(RANBP2):c.3461A>T (p.His1154Leu) rs77443930 0.00272
NM_006267.5(RANBP2):c.8407A>G (p.Ile2803Val) rs61758804 0.00272
NM_001110792.2(MECP2):c.1371G>A (p.Thr457=) rs3027927 0.00256
NM_006267.5(RANBP2):c.225C>G (p.Asn75Lys) rs144278795 0.00227
NM_001122752.2(SERPINI1):c.40A>G (p.Ser14Gly) rs61735307 0.00225
NM_006267.5(RANBP2):c.4760G>T (p.Gly1587Val) rs148677577 0.00204
NM_001110792.2(MECP2):c.618C>T (p.Ser206=) rs61749711 0.00194
NM_006267.5(RANBP2):c.7670A>G (p.Asn2557Ser) rs145613015 0.00184
NM_006267.5(RANBP2):c.1536G>A (p.Pro512=) rs370400502 0.00175
NM_001110792.2(MECP2):c.933C>T (p.Thr311=) rs61748423 0.00166
NM_001122752.2(SERPINI1):c.77T>C (p.Ile26Thr) rs146948408 0.00163
NM_001110792.2(MECP2):c.1071A>G (p.Lys357=) rs61752362 0.00153
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381 0.00150
NM_006267.5(RANBP2):c.3501T>C (p.Asp1167=) rs141352171 0.00140
NM_006267.5(RANBP2):c.4826A>T (p.Gln1609Leu) rs146669983 0.00132
NM_006267.5(RANBP2):c.5217C>T (p.Ala1739=) rs146460294 0.00120
NM_006267.5(RANBP2):c.7172C>G (p.Thr2391Ser) rs2433786 0.00117
NM_006267.5(RANBP2):c.2502C>G (p.Asn834Lys) rs144573168 0.00110
NM_001110792.2(MECP2):c.246C>T (p.Ser82=) rs61754439 0.00109
NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser) rs61752387 0.00108
NM_006267.5(RANBP2):c.783-6T>C rs138540027 0.00107
NM_001122752.2(SERPINI1):c.432T>C (p.Asn144=) rs140116256 0.00106
NM_006267.5(RANBP2):c.1920A>G (p.Ala640=) rs147080366 0.00106
NM_006267.5(RANBP2):c.6663A>G (p.Thr2221=) rs150750548 0.00102
NM_006267.5(RANBP2):c.4530A>G (p.Leu1510=) rs111676038 0.00098
NM_006267.5(RANBP2):c.8599+16G>A rs145152325 0.00086
NM_001110792.2(MECP2):c.1233C>T (p.Pro411=) rs61753012 0.00081
NM_006267.5(RANBP2):c.6270G>A (p.Thr2090=) rs138191683 0.00081
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) rs61753975 0.00080
NM_006267.5(RANBP2):c.2520T>C (p.Arg840=) rs150539591 0.00071
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_001122752.2(SERPINI1):c.218G>A (p.Arg73His) rs139808176 0.00063
NM_006267.5(RANBP2):c.7499C>T (p.Thr2500Ile) rs140280672 0.00061
NM_006267.5(RANBP2):c.2212C>T (p.Pro738Ser) rs201793011 0.00060
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517 0.00059
NM_001110792.2(MECP2):c.879C>T (p.Ala293=) rs61750252 0.00058
NM_006267.5(RANBP2):c.238G>A (p.Val80Ile) rs140785381 0.00054
NM_006267.5(RANBP2):c.1755+15A>G rs376409146 0.00051
NM_001110792.2(MECP2):c.855G>T (p.Gly285=) rs61750245 0.00046
NM_001110792.2(MECP2):c.870C>T (p.Ala290=) rs61750248 0.00045
NM_006267.5(RANBP2):c.2405G>A (p.Arg802Gln) rs187011794 0.00044
NM_001110792.2(MECP2):c.885C>G (p.Ala295=) rs61750253 0.00042
NM_006267.5(RANBP2):c.8671G>A (p.Gly2891Ser) rs376940698 0.00037
NM_001110792.2(MECP2):c.312A>G (p.Gly104=) rs140191561 0.00035
NM_001110792.2(MECP2):c.978C>T (p.Ile326=) rs61751446 0.00034
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser) rs61749713 0.00031
NM_001110792.2(MECP2):c.1108G>A (p.Ala370Thr) rs147017239 0.00030
NM_006267.5(RANBP2):c.6203A>G (p.Asn2068Ser) rs150424672 0.00030
NM_001110792.2(MECP2):c.813C>T (p.Ala271=) rs1042870 0.00028
NM_001110792.2(MECP2):c.731G>C (p.Gly244Ala) rs61748422 0.00026
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met) rs267608572 0.00023
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_001110792.2(MECP2):c.1173C>T (p.Pro391=) rs61752980 0.00020
NM_001110792.2(MECP2):c.1224C>T (p.Ser408=) rs781816931 0.00020
NM_001110792.2(MECP2):c.462C>T (p.Phe154=) rs61748397 0.00020
NM_001110792.2(MECP2):c.1242C>T (p.Pro414=) rs63586860 0.00019
NM_006267.5(RANBP2):c.2751T>C (p.Tyr917=) rs140567791 0.00019
NM_001110792.2(MECP2):c.429C>G (p.Ala143=) rs61748385 0.00018
NM_001110792.2(MECP2):c.722C>T (p.Ser241Leu) rs61749739 0.00018
NM_006267.5(RANBP2):c.7669A>G (p.Asn2557Asp) rs575319797 0.00018
NM_006267.5(RANBP2):c.834G>A (p.Leu278=) rs199652721 0.00018
NM_001110792.2(MECP2):c.621C>T (p.Gly207=) rs61749712 0.00017
NM_006267.5(RANBP2):c.2901A>G (p.Gln967=) rs376394926 0.00017
NM_001110792.2(MECP2):c.1270G>A (p.Val424Ile) rs61753966 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_001110792.2(MECP2):c.789C>T (p.Pro263=) rs63582063 0.00015
NM_006267.5(RANBP2):c.3955G>C (p.Ala1319Pro) rs374902910 0.00015
NM_001110792.2(MECP2):c.1293C>T (p.Pro431=) rs199540575 0.00014
NM_001110792.2(MECP2):c.1176G>A (p.Val392=) rs201711454 0.00013
NM_001110792.2(MECP2):c.897C>T (p.Ala299=) rs139378224 0.00013
NM_006267.5(RANBP2):c.3253A>C (p.Lys1085Gln) rs576035153 0.00013
NM_001110792.2(MECP2):c.1032C>T (p.Ser344=) rs148744894 0.00012
NM_001110792.2(MECP2):c.1363G>A (p.Ala455Thr) rs193922677 0.00012
NM_001110792.2(MECP2):c.171C>T (p.Pro57=) rs139477857 0.00012
NM_001110792.2(MECP2):c.669G>C (p.Arg223Ser) rs61749731 0.00012
NM_006267.5(RANBP2):c.1108A>G (p.Lys370Glu) rs143137111 0.00012
NM_001110792.2(MECP2):c.1318G>A (p.Gly440Ser) rs61753971 0.00011
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.1216G>A (p.Glu406Lys) rs63094662 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.851C>T (p.Pro284Leu) rs61750243 0.00009
NM_014297.5(ETHE1):c.573C>T (p.Ile191=) rs139119694 0.00009
NM_001110792.2(MECP2):c.1473G>A (p.Thr491=) rs587781033 0.00008
NM_006267.5(RANBP2):c.1740A>G (p.Glu580=) rs554245982 0.00008
NM_006267.5(RANBP2):c.2625A>G (p.Val875=) rs200515712 0.00008
NM_006267.5(RANBP2):c.9216G>A (p.Ala3072=) rs371443840 0.00008
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_001122752.2(SERPINI1):c.251-10C>G rs200606523 0.00007
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.1292C>T (p.Pro431Leu) rs376324027 0.00006
NM_006267.5(RANBP2):c.1644A>G (p.Val548=) rs1057955 0.00006
NM_006267.5(RANBP2):c.9035-4C>T rs753514543 0.00006
NM_001110792.2(MECP2):c.107A>G (p.Lys36Arg) rs782344115 0.00005
NM_001110792.2(MECP2):c.1353G>A (p.Ala451=) rs146632223 0.00005
NM_001110792.2(MECP2):c.414-20C>G rs368684221 0.00005
NM_001110792.2(MECP2):c.510G>A (p.Thr170=) rs61748413 0.00005
NM_001110792.2(MECP2):c.696C>T (p.Leu232=) rs267608512 0.00005
NM_006267.5(RANBP2):c.2202+14T>G rs202098901 0.00005
NM_006267.5(RANBP2):c.3612C>T (p.Phe1204=) rs749275095 0.00005
NM_001110792.2(MECP2):c.1021G>A (p.Gly341Ser) rs201871183 0.00004
NM_001110792.2(MECP2):c.1120C>G (p.Pro374Ala) rs782171742 0.00004
NM_001110792.2(MECP2):c.1302C>T (p.Gly434=) rs61753970 0.00004
NM_001110792.2(MECP2):c.1352C>T (p.Ala451Val) rs782805738 0.00004
NM_001110792.2(MECP2):c.550C>G (p.Pro184Ala) rs61748426 0.00004
NM_001110792.2(MECP2):c.750G>A (p.Gly250=) rs369813305 0.00004
NM_001110792.2(MECP2):c.877G>A (p.Ala293Thr) rs782239416 0.00004
NM_001110792.2(MECP2):c.1002C>T (p.Pro334=) rs1165796985 0.00003
NM_001110792.2(MECP2):c.1231C>T (p.Pro411Ser) rs797045691 0.00003
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser) rs140258520 0.00003
NM_001110792.2(MECP2):c.1364C>T (p.Ala455Val) rs375101073 0.00003
NM_001110792.2(MECP2):c.1477G>A (p.Val493Met) rs193922678 0.00003
NM_001110792.2(MECP2):c.172G>A (p.Val58Met) rs587783134 0.00003
NM_001110792.2(MECP2):c.261G>A (p.Pro87=) rs61754442 0.00003
NM_001110792.2(MECP2):c.484C>T (p.Leu162=) rs371082040 0.00003
NM_001110792.2(MECP2):c.531C>T (p.Pro177=) rs376821032 0.00003
NM_001110792.2(MECP2):c.771C>G (p.Val257=) rs782027467 0.00003
NM_001110792.2(MECP2):c.852G>A (p.Pro284=) rs587783746 0.00003
NM_006267.5(RANBP2):c.7863A>G (p.Lys2621=) rs749384165 0.00003
NM_001110792.2(MECP2):c.1037A>G (p.Lys346Arg) rs782121443 0.00002
NM_001110792.2(MECP2):c.108A>G (p.Lys36=) rs782202329 0.00002
NM_001110792.2(MECP2):c.1098C>T (p.Arg366=) rs782228941 0.00002
NM_001110792.2(MECP2):c.1117C>G (p.Pro373Ala) rs61752373 0.00002
NM_001110792.2(MECP2):c.1150C>T (p.His384Tyr) rs375477214 0.00002
NM_001110792.2(MECP2):c.1199C>T (p.Pro400Leu) rs61753006 0.00002
NM_001110792.2(MECP2):c.1303T>C (p.Ser435Pro) rs782243032 0.00002
NM_001110792.2(MECP2):c.1324C>T (p.Pro442Ser) rs267608622 0.00002
NM_001110792.2(MECP2):c.1325C>T (p.Pro442Leu) rs930563451 0.00002
NM_001110792.2(MECP2):c.1365C>T (p.Ala455=) rs782706777 0.00002
NM_001110792.2(MECP2):c.1410C>T (p.Arg470=) rs781825661 0.00002
NM_001110792.2(MECP2):c.189C>T (p.His63=) rs267608432 0.00002
NM_001110792.2(MECP2):c.281A>G (p.Lys94Arg) rs61754444 0.00002
NM_001110792.2(MECP2):c.413+18C>G rs267608461 0.00002
NM_001110792.2(MECP2):c.414-3C>T rs267608465 0.00002
NM_001110792.2(MECP2):c.414-6C>G rs782482746 0.00002
NM_001110792.2(MECP2):c.414T>C (p.Asn138=) rs782035249 0.00002
NM_001110792.2(MECP2):c.619G>A (p.Gly207Ser) rs782806083 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_001110792.2(MECP2):c.727G>A (p.Gly243Arg) rs587783139 0.00002
NM_001110792.2(MECP2):c.81C>T (p.Asp27=) rs782168400 0.00002
NM_001110792.2(MECP2):c.918A>G (p.Arg306=) rs782744332 0.00002
NM_001110792.2(MECP2):c.1013C>A (p.Ser338Tyr) rs1557136107 0.00001
NM_001110792.2(MECP2):c.105C>G (p.Asp35Glu) rs781974856 0.00001
NM_001110792.2(MECP2):c.1131G>A (p.Glu377=) rs782085130 0.00001
NM_001110792.2(MECP2):c.1137C>G (p.His379Gln) rs1336019373 0.00001
NM_001110792.2(MECP2):c.1161C>T (p.Ser387=) rs782221170 0.00001
NM_001110792.2(MECP2):c.1221C>T (p.Ser407=) rs782775618 0.00001
NM_001110792.2(MECP2):c.1238G>A (p.Ser413Asn) rs62707562 0.00001
NM_001110792.2(MECP2):c.1240C>A (p.Pro414Thr) rs150146088 0.00001
NM_001110792.2(MECP2):c.1317C>T (p.Asp439=) rs374900442 0.00001
NM_001110792.2(MECP2):c.1320C>T (p.Gly440=) rs267608621 0.00001
NM_001110792.2(MECP2):c.1327A>C (p.Lys443Gln) rs781829911 0.00001
NM_001110792.2(MECP2):c.1359C>T (p.Ala453=) rs781964746 0.00001
NM_001110792.2(MECP2):c.1376C>T (p.Ala459Val) rs61753978 0.00001
NM_001110792.2(MECP2):c.1414G>C (p.Asp472His) rs782747061 0.00001
NM_001110792.2(MECP2):c.1466G>C (p.Ser489Thr) rs267608328 0.00001
NM_001110792.2(MECP2):c.1474C>T (p.Pro492Ser) rs267608636 0.00001
NM_001110792.2(MECP2):c.289C>T (p.Arg97Cys) rs1064797047 0.00001
NM_001110792.2(MECP2):c.474C>T (p.Gly158=) rs61748386 0.00001
NM_001110792.2(MECP2):c.573C>G (p.Pro191=) rs782676768 0.00001
NM_001110792.2(MECP2):c.587C>G (p.Thr196Ser) rs782419414 0.00001
NM_001110792.2(MECP2):c.631C>T (p.Pro211Ser) rs373329231 0.00001
NM_001110792.2(MECP2):c.673C>G (p.Leu225Val) rs782473355 0.00001
NM_001110792.2(MECP2):c.682A>G (p.Ser228Gly) rs782777382 0.00001
NM_001110792.2(MECP2):c.75A>G (p.Ser25=) rs782561844 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.888A>G (p.Lys296=) rs1475733695 0.00001
NM_001110792.2(MECP2):c.895G>C (p.Ala299Pro) rs61750257 0.00001
NM_001110792.2(MECP2):c.898G>A (p.Val300Met) rs782455664 0.00001
NM_001110792.2(MECP2):c.939C>G (p.Leu313=) rs61751372 0.00001
NM_006267.5(RANBP2):c.2754G>A (p.Pro918=) rs542711340 0.00001
NM_001110792.2(MECP2):c.-31AG[2] rs587783128
NM_001110792.2(MECP2):c.1020C>G (p.Leu340=) rs61751442
NM_001110792.2(MECP2):c.1028A>G (p.Lys343Arg) rs267608557
NM_001110792.2(MECP2):c.1102A>G (p.Ser368Gly) rs2148661316
NM_001110792.2(MECP2):c.1151_1154delinsCCCA (p.His384_Ser385delinsProGln) rs2148660984
NM_001110792.2(MECP2):c.1156G>C (p.Glu386Gln) rs2148660959
NM_001110792.2(MECP2):c.1194G>A (p.Leu398=) rs782270536
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.1240C>T (p.Pro414Ser) rs150146088
NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu) rs61753014
NM_001110792.2(MECP2):c.1261AGC[2] (p.Ser423del) rs2065909462
NM_001110792.2(MECP2):c.1269_1270delinsTT (p.Val424Phe) rs2065909328
NM_001110792.2(MECP2):c.1277A>G (p.Lys426Arg) rs2148659263
NM_001110792.2(MECP2):c.1289T>C (p.Met430Thr) rs1210814372
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.139A>G (p.Lys47Glu) rs2522112759
NM_001110792.2(MECP2):c.1439G>C (p.Arg480Thr) rs2065902151
NM_001110792.2(MECP2):c.1452G>C (p.Glu484Asp) rs2148658484
NM_001110792.2(MECP2):c.191A>G (p.His64Arg) rs61754433
NM_001110792.2(MECP2):c.33AGG[4] (p.Gly16del) rs587783744
NM_001110792.2(MECP2):c.33AGG[6] (p.Gly16dup) rs587783744
NM_001110792.2(MECP2):c.413+15C>G rs782719824
NM_001110792.2(MECP2):c.414-17del rs61753982
NM_001110792.2(MECP2):c.414-18_414-15del rs782156136
NM_001110792.2(MECP2):c.414-5C>T rs782739600
NM_001110792.2(MECP2):c.564C>G (p.Pro188=) rs61754420
NM_001110792.2(MECP2):c.564C>T (p.Pro188=) rs61754420
NM_001110792.2(MECP2):c.632C>A (p.Pro211His) rs267608502
NM_001110792.2(MECP2):c.641C>T (p.Ala214Val) rs587783138
NM_001110792.2(MECP2):c.6CGC[5] (p.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.715C>G (p.Gln239Glu) rs61749737
NM_001110792.2(MECP2):c.727G>C (p.Gly243Arg) rs587783139
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.806C>G (p.Ala269Gly) rs2148662683
NM_001110792.2(MECP2):c.872C>G (p.Ala291Gly) rs61750249
NM_001122752.2(SERPINI1):c.482-10dup rs772199277
NM_001122752.2(SERPINI1):c.676+14dup rs1300289148
NM_006267.5(RANBP2):c.1756-3del rs2467520579
NM_006267.5(RANBP2):c.2340G>T (p.Pro780=) rs2912839
NM_006267.5(RANBP2):c.2383-3dup rs542446071
NM_006267.5(RANBP2):c.2467-11dup rs747860271
NM_006267.5(RANBP2):c.3162_3163delinsTT (p.Gln1054_Pro1055delinsHisSer) rs1553494411
NM_006267.5(RANBP2):c.5367T>G (p.Val1789=) rs200692090
NM_006267.5(RANBP2):c.6612C>A (p.Ala2204=) rs202005268
NM_006267.5(RANBP2):c.6612C>T (p.Ala2204=) rs202005268
NM_006267.5(RANBP2):c.7474A>C (p.Thr2492Pro) rs2693103
NM_014297.5(ETHE1):c.378G>A (p.Ala126=) rs138427304
NM_014297.5(ETHE1):c.82-9del rs1416485242

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.