ClinVar Miner

List of variants reported as pathogenic for Mowat-Wilson syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 225
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HGVS dbSNP gnomAD frequency
NC_000002.11:g.(?_145147018)_(145753167_?)del
NC_000002.11:g.(?_145153959)_(145158894_?)del
NC_000002.11:g.(?_145274825)_(145274988_?)del
NC_000002.12:g.(144114719_144303837)_(144566562_144681958)del
NC_000002.12:g.(?_144517258)_(144517420_?)del
NC_000002.12:g.(?_144517278)_(144517419_?)del
NM_014795.3(ZEB2):c.(?_-522)_(*5076_?)del
NM_014795.3(ZEB2):c.3068-?_(*5076_?)del
NM_014795.3(ZEB2):c.404-?_(*5076_?)del
NM_014795.3:c.1439_1440insAlu
NM_014795.4(ZEB2):c.-69-1G>A rs587776612
NM_014795.4(ZEB2):c.1017del (p.Ser339_Val340insTer) rs1573717685
NM_014795.4(ZEB2):c.101_102del (p.Thr34fs)
NM_014795.4(ZEB2):c.1027C>T (p.Arg343Ter) rs786204815
NM_014795.4(ZEB2):c.1038_1039del (p.Asn346fs) rs2149877500
NM_014795.4(ZEB2):c.1052del (p.Gly351fs) rs2149877492
NM_014795.4(ZEB2):c.1077_1081del (p.Ser360fs) rs1703290664
NM_014795.4(ZEB2):c.1102C>T (p.Gln368Ter) rs886041338
NM_014795.4(ZEB2):c.1106T>A (p.Leu369Ter) rs797046117
NM_014795.4(ZEB2):c.1161dup (p.Leu388fs)
NM_014795.4(ZEB2):c.1170del (p.Thr392fs) rs2149877432
NM_014795.4(ZEB2):c.1172_1182delinsTGACTTAAAATTAATG (p.Lys391_Pro394delinsMetThrTer) rs786204805
NM_014795.4(ZEB2):c.1173_1176del (p.Thr392fs) rs587776603
NM_014795.4(ZEB2):c.1200_1201del (p.Tyr400_Lys401delinsTer) rs2149877421
NM_014795.4(ZEB2):c.1209del (p.Met404fs) rs2149877416
NM_014795.4(ZEB2):c.1218del (p.His407fs) rs727504226
NM_014795.4(ZEB2):c.1242_1249del (p.Phe415fs) rs2149877380
NM_014795.4(ZEB2):c.1257del (p.Gly421fs) rs786204801
NM_014795.4(ZEB2):c.1277T>A (p.Leu426Ter) rs786204807
NM_014795.4(ZEB2):c.1277T>G (p.Leu426Ter) rs786204807
NM_014795.4(ZEB2):c.1309C>T (p.Gln437Ter) rs760437173
NM_014795.4(ZEB2):c.1342del (p.Thr452fs)
NM_014795.4(ZEB2):c.1349_1350del (p.Phe450fs)
NM_014795.4(ZEB2):c.1364del (p.Ser455fs)
NM_014795.4(ZEB2):c.1381C>T (p.Gln461Ter) rs398124274
NM_014795.4(ZEB2):c.1387del (p.Val463fs) rs1573717173
NM_014795.4(ZEB2):c.1416_1420del (p.Arg473fs) rs786204814
NM_014795.4(ZEB2):c.1420C>T (p.Gln474Ter) rs2149877279
NM_014795.4(ZEB2):c.1426dup (p.Met476fs) rs587776604
NM_014795.4(ZEB2):c.1434C>A (p.Cys478Ter) rs756778602
NM_014795.4(ZEB2):c.1474A>T (p.Lys492Ter)
NM_014795.4(ZEB2):c.1489C>T (p.Gln497Ter) rs1553961702
NM_014795.4(ZEB2):c.1541_1542insA (p.Val515fs) rs1553961695
NM_014795.4(ZEB2):c.1541_1548del (p.Pro514fs) rs1703280501
NM_014795.4(ZEB2):c.1556del (p.Asn519fs) rs1703280349
NM_014795.4(ZEB2):c.1564del (p.Thr522fs)
NM_014795.4(ZEB2):c.1570dup (p.Ser524fs) rs1560606974
NM_014795.4(ZEB2):c.1578_1579delinsA (p.Asp527fs)
NM_014795.4(ZEB2):c.1630_1631del (p.Thr544fs) rs2149877154
NM_014795.4(ZEB2):c.1631_1635dup (p.Asp546fs)
NM_014795.4(ZEB2):c.1645A>T (p.Arg549Ter) rs137852980
NM_014795.4(ZEB2):c.1653del (p.Ser552fs) rs786204820
NM_014795.4(ZEB2):c.1687del (p.Leu562_Ile563insTer) rs786204819
NM_014795.4(ZEB2):c.1700_1703del (p.Thr567fs)
NM_014795.4(ZEB2):c.1700_1703dup (p.Asp568_Asp569insTer) rs2149877112
NM_014795.4(ZEB2):c.1747del (p.Cys583fs) rs2149877082
NM_014795.4(ZEB2):c.1749C>A (p.Cys583Ter) rs786204808
NM_014795.4(ZEB2):c.1754del (p.Phe585fs) rs786204809
NM_014795.4(ZEB2):c.1770del (p.Pro591fs) rs1703277223
NM_014795.4(ZEB2):c.178_190delinsGTT (p.Thr60fs) rs730881215
NM_014795.4(ZEB2):c.1848del (p.His617fs) rs2149877032
NM_014795.4(ZEB2):c.1862del (p.Val621fs) rs587776611
NM_014795.4(ZEB2):c.1866dup (p.Asn623fs) rs2149877017
NM_014795.4(ZEB2):c.1870A>T (p.Lys624Ter)
NM_014795.4(ZEB2):c.1876G>T (p.Gly626Ter) rs727504224
NM_014795.4(ZEB2):c.1884del (p.Phe628fs) rs786204811
NM_014795.4(ZEB2):c.1892del (p.Asn631fs) rs587776607
NM_014795.4(ZEB2):c.1907dup (p.Leu636fs)
NM_014795.4(ZEB2):c.1910C>A (p.Ser637Ter)
NM_014795.4(ZEB2):c.1944del (p.Ile649fs) rs786204803
NM_014795.4(ZEB2):c.194_195del (p.Val65fs) rs1573743951
NM_014795.4(ZEB2):c.1956C>A (p.Tyr652Ter) rs587784563
NM_014795.4(ZEB2):c.1966_1967del (p.Met656fs) rs786204818
NM_014795.4(ZEB2):c.198del (p.Asn67fs)
NM_014795.4(ZEB2):c.2024del (p.Leu675fs)
NM_014795.4(ZEB2):c.2038_2152dup (p.Asn718delinsSerCysGlyProSerSerGlyIleCysGluGlyMetValTer) rs1553961598
NM_014795.4(ZEB2):c.2056G>T (p.Glu686Ter) rs2149876873
NM_014795.4(ZEB2):c.2061del (p.Phe687fs) rs797046118
NM_014795.4(ZEB2):c.2064del (p.Lys689fs) rs2149876861
NM_014795.4(ZEB2):c.2072G>A (p.Trp691Ter) rs1553961610
NM_014795.4(ZEB2):c.2083C>T (p.Arg695Ter) rs137852981
NM_014795.4(ZEB2):c.2087_2088del (p.Lys696fs)
NM_014795.4(ZEB2):c.2095C>T (p.Gln699Ter) rs1573716158
NM_014795.4(ZEB2):c.20_21insT (p.Asp8fs) rs786204802
NM_014795.4(ZEB2):c.2122del (p.Leu708fs) rs2149876829
NM_014795.4(ZEB2):c.2177_2178del (p.Ser726fs) rs1703269824
NM_014795.4(ZEB2):c.2177_2180del (p.Ser726fs) rs786204821
NM_014795.4(ZEB2):c.2179_2180del (p.Leu727fs) rs786204810
NM_014795.4(ZEB2):c.2180T>A (p.Leu727Ter)
NM_014795.4(ZEB2):c.2211_2214dup (p.Ile739fs) rs1553961585
NM_014795.4(ZEB2):c.2227del (p.Ser743fs) rs1553961580
NM_014795.4(ZEB2):c.2228_2229del (p.Ser743fs) rs730881211
NM_014795.4(ZEB2):c.2242dup (p.His748fs)
NM_014795.4(ZEB2):c.2254dup (p.Thr752fs)
NM_014795.4(ZEB2):c.227_233del (p.Gln76fs) rs786204812
NM_014795.4(ZEB2):c.2303del (p.Asn768fs) rs1703267358
NM_014795.4(ZEB2):c.2337del (p.Ser780fs) rs1560606294
NM_014795.4(ZEB2):c.234_235del (p.Leu79fs) rs1553964147
NM_014795.4(ZEB2):c.2357dup (p.Leu786fs)
NM_014795.4(ZEB2):c.236_239del (p.Leu78_Leu79insTer) rs1560620837
NM_014795.4(ZEB2):c.2374dup (p.Ser792fs) rs2149876649
NM_014795.4(ZEB2):c.2404_2407del (p.Thr802fs) rs797046119
NM_014795.4(ZEB2):c.2425G>T (p.Glu809Ter) rs1703265228
NM_014795.4(ZEB2):c.2453dup (p.Leu818fs) rs587776606
NM_014795.4(ZEB2):c.2476G>T (p.Glu826Ter)
NM_014795.4(ZEB2):c.2501del (p.Lys834fs) rs587784565
NM_014795.4(ZEB2):c.2531T>G (p.Leu844Ter)
NM_014795.4(ZEB2):c.2555C>G (p.Ser852Ter) rs137852982
NM_014795.4(ZEB2):c.2577dup (p.Leu860fs)
NM_014795.4(ZEB2):c.2592del (p.Phe864fs) rs2149876500
NM_014795.4(ZEB2):c.2630dup (p.Asn877fs)
NM_014795.4(ZEB2):c.2635_2649delinsTAA (p.Ser879_Val883delinsTer)
NM_014795.4(ZEB2):c.2645dup (p.Val883fs)
NM_014795.4(ZEB2):c.2672_2678del (p.Ala891fs) rs878855329
NM_014795.4(ZEB2):c.2682del (p.Leu894fs)
NM_014795.4(ZEB2):c.2687_2688dup (p.Ala897fs) rs786204804
NM_014795.4(ZEB2):c.2688dup (p.Ala897fs) rs1553961510
NM_014795.4(ZEB2):c.2701C>T (p.Gln901Ter) rs794727924
NM_014795.4(ZEB2):c.2717del (p.Pro906fs) rs2149876411
NM_014795.4(ZEB2):c.2718del (p.Ala907fs)
NM_014795.4(ZEB2):c.2745del (p.Ser916fs) rs2149876398
NM_014795.4(ZEB2):c.274G>T (p.Gly92Ter)
NM_014795.4(ZEB2):c.2757del (p.Leu920fs) rs1560605892
NM_014795.4(ZEB2):c.2761C>T (p.Arg921Ter) rs587784566
NM_014795.4(ZEB2):c.2769C>A (p.Tyr923Ter)
NM_014795.4(ZEB2):c.2769C>G (p.Tyr923Ter)
NM_014795.4(ZEB2):c.2806del (p.Ala936fs) rs1553961487
NM_014795.4(ZEB2):c.2856del (p.Arg953fs)
NM_014795.4(ZEB2):c.2886+1G>A rs1703257054
NM_014795.4(ZEB2):c.2894T>A (p.Leu965Ter) rs797046120
NM_014795.4(ZEB2):c.289del (p.Trp97fs) rs727503784
NM_014795.4(ZEB2):c.2958_2961del (p.Ser987fs) rs1703231612
NM_014795.4(ZEB2):c.2996_3003del (p.Met998_Tyr999insTer) rs1573713477
NM_014795.4(ZEB2):c.3002del (p.Cys1001fs) rs730881212
NM_014795.4(ZEB2):c.3025C>T (p.Gln1009Ter) rs1560604977
NM_014795.4(ZEB2):c.3031del (p.Ser1011fs)
NM_014795.4(ZEB2):c.3046C>T (p.Arg1016Ter) rs886041989
NM_014795.4(ZEB2):c.3056dup (p.Tyr1019Ter)
NM_014795.4(ZEB2):c.3073del (p.Arg1025fs) rs730881217
NM_014795.4(ZEB2):c.3077_3084dup (p.Cys1029fs)
NM_014795.4(ZEB2):c.3094del (p.Cys1032fs) rs2149872716
NM_014795.4(ZEB2):c.3095del (p.Cys1032fs) rs1060500653
NM_014795.4(ZEB2):c.3100_3103del (p.Lys1034fs)
NM_014795.4(ZEB2):c.3109A>T (p.Lys1037Ter) rs1553960793
NM_014795.4(ZEB2):c.310C>T (p.Gln104Ter) rs753880265
NM_014795.4(ZEB2):c.3134A>G (p.His1045Arg) rs397515449
NM_014795.4(ZEB2):c.3134A>T (p.His1045Leu)
NM_014795.4(ZEB2):c.3134del (p.His1045fs) rs2149872686
NM_014795.4(ZEB2):c.3137C>A (p.Ser1046Ter) rs797046121
NM_014795.4(ZEB2):c.313del (p.Ala105fs) rs2149891139
NM_014795.4(ZEB2):c.3154G>T (p.Glu1052Ter) rs2149872664
NM_014795.4(ZEB2):c.3166C>T (p.Gln1056Ter)
NM_014795.4(ZEB2):c.3170G>A (p.Cys1057Tyr) rs1135401790
NM_014795.4(ZEB2):c.3195dup (p.His1066fs) rs730881213
NM_014795.4(ZEB2):c.3198_3202del (p.His1066fs) rs2149872642
NM_014795.4(ZEB2):c.31del (p.Arg11fs) rs2149935159
NM_014795.4(ZEB2):c.3203del (p.Gly1068fs)
NM_014795.4(ZEB2):c.3206C>A (p.Ser1069Ter) rs1553960778
NM_014795.4(ZEB2):c.3208_3209insGA (p.Tyr1070Ter) rs2149872634
NM_014795.4(ZEB2):c.3210C>A (p.Tyr1070Ter)
NM_014795.4(ZEB2):c.3211T>C (p.Ser1071Pro) rs397515448
NM_014795.4(ZEB2):c.3213_3214insGG (p.Gln1072fs)
NM_014795.4(ZEB2):c.3242G>A (p.Cys1081Tyr) rs2149872616
NM_014795.4(ZEB2):c.331+1G>T rs1703742764
NM_014795.4(ZEB2):c.3356A>G (p.Gln1119Arg) rs137852983
NM_014795.4(ZEB2):c.3359_3364delinsTAATG (p.Gly1120fs) rs398124280
NM_014795.4(ZEB2):c.3391_3400del (p.Pro1131fs) rs786204816
NM_014795.4(ZEB2):c.3499del (p.Ser1167fs) rs730881218
NM_014795.4(ZEB2):c.351T>A (p.Tyr117Ter) rs1560618505
NM_014795.4(ZEB2):c.3566_3567dup (p.Met1190fs) rs587776609
NM_014795.4(ZEB2):c.425C>G (p.Ser142Ter)
NM_014795.4(ZEB2):c.425_429del (p.Ser142fs) rs1573722407
NM_014795.4(ZEB2):c.432dup (p.Glu145Ter) rs1560609810
NM_014795.4(ZEB2):c.460del (p.Glu154fs) rs786204817
NM_014795.4(ZEB2):c.477_484del (p.His159fs)
NM_014795.4(ZEB2):c.481del (p.Val161fs) rs1553962198
NM_014795.4(ZEB2):c.484_486delinsGCCTCGCTAACCTCGCCTTACCCCCCACTATTAACCTACTGGGAGAACTCTCTGTGCTAGTAACCACGTTCTCCTGATCAAATATCACTCTCCTACTTACAGGACTCAACATACTAGTCACAGCCCT (p.Ser162delinsAlaSerLeuThrSerProTyrProProLeuLeuThrTyrTrpGluAsnSerLeuCysTer) rs2149879709
NM_014795.4(ZEB2):c.493G>T (p.Glu165Ter) rs1314954470
NM_014795.4(ZEB2):c.502C>T (p.Gln168Ter) rs1560609721
NM_014795.4(ZEB2):c.540del (p.Glu181fs)
NM_014795.4(ZEB2):c.550_568del (p.Ser184fs) rs587784568
NM_014795.4(ZEB2):c.553_554insTG (p.Arg185fs) rs587776608
NM_014795.4(ZEB2):c.585del (p.Glu196fs) rs1573722122
NM_014795.4(ZEB2):c.621dup (p.Ala208fs)
NM_014795.4(ZEB2):c.625C>T (p.Gln209Ter) rs527679524
NM_014795.4(ZEB2):c.643_659del (p.Tyr215fs) rs398124281
NM_014795.4(ZEB2):c.650_653dup (p.Gly219fs)
NM_014795.4(ZEB2):c.656del (p.Gly219fs) rs1573721242
NM_014795.4(ZEB2):c.660C>G (p.Tyr220Ter) rs111724246
NM_014795.4(ZEB2):c.674C>A (p.Ser225Ter) rs797046122
NM_014795.4(ZEB2):c.67A>T (p.Lys23Ter) rs1705170374
NM_014795.4(ZEB2):c.696C>A (p.Tyr232Ter) rs1060503990
NM_014795.4(ZEB2):c.696C>G (p.Tyr232Ter)
NM_014795.4(ZEB2):c.703G>T (p.Glu235Ter) rs1553962069
NM_014795.4(ZEB2):c.703del (p.Glu235fs) rs786204806
NM_014795.4(ZEB2):c.712G>T (p.Glu238Ter) rs2149879206
NM_014795.4(ZEB2):c.715del (p.Glu239fs)
NM_014795.4(ZEB2):c.71del (p.Asn24fs) rs1553971826
NM_014795.4(ZEB2):c.71dup (p.Asn24fs) rs1553971826
NM_014795.4(ZEB2):c.73+1G>A rs2149935109
NM_014795.4(ZEB2):c.73+1del rs786204813
NM_014795.4(ZEB2):c.73+2T>C rs398124282
NM_014795.4(ZEB2):c.760_761dup (p.Gln255fs) rs587776605
NM_014795.4(ZEB2):c.769G>T (p.Glu257Ter) rs1703347173
NM_014795.4(ZEB2):c.770_771del (p.Glu257fs) rs1573721065
NM_014795.4(ZEB2):c.776dup (p.His259fs) rs1703347063
NM_014795.4(ZEB2):c.808-2A>G rs1560607925
NM_014795.4(ZEB2):c.817del (p.Met272_Leu273insTer)
NM_014795.4(ZEB2):c.818_821dup (p.Gln275fs) rs2149877994
NM_014795.4(ZEB2):c.823C>T (p.Gln275Ter) rs587784570
NM_014795.4(ZEB2):c.846del (p.Phe282fs)
NM_014795.4(ZEB2):c.857_858del (p.Glu286fs) rs1573718630
NM_014795.4(ZEB2):c.858del (p.Glu286fs)
NM_014795.4(ZEB2):c.874A>T (p.Lys292Ter) rs2149877963
NM_014795.4(ZEB2):c.876dup (p.Tyr293fs) rs2149877962
NM_014795.4(ZEB2):c.901del (p.Leu301fs)
NM_014795.4(ZEB2):c.904C>T (p.Arg302Ter) rs587784571
NM_014795.4(ZEB2):c.904del (p.Arg302fs)
NM_014795.4(ZEB2):c.916+5G>A rs1703305546
NM_014795.4(ZEB2):c.916+6T>G
NM_014795.4(ZEB2):c.917-1G>A
NM_014795.4(ZEB2):c.917-2A>G
NM_014795.4(ZEB2):c.962_970delinsC (p.His321fs)
NM_014795.4(ZEB2):c.999del (p.Lys333fs) rs730881208
Single allele

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