ClinVar Miner

List of variants studied for Mowat-Wilson syndrome by Genome-Nilou Lab

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ClinVar version:
Total variants: 128
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HGVS dbSNP gnomAD frequency
NM_014795.4(ZEB2):c.930C>T (p.Tyr310=) rs6711223 0.01102
NM_014795.4(ZEB2):c.403+18C>T rs116404871 0.00305
NM_014795.4(ZEB2):c.2141C>T (p.Pro714Leu) rs112581563 0.00281
NM_014795.4(ZEB2):c.489C>T (p.Ile163=) rs138859323 0.00277
NM_014795.4(ZEB2):c.2887-4G>A rs147972125 0.00222
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser) rs144952836 0.00206
NM_014795.4(ZEB2):c.807+3G>C rs144925893 0.00194
NM_014795.4(ZEB2):c.3471C>T (p.Asp1157=) rs149526010 0.00186
NM_014795.4(ZEB2):c.2230A>G (p.Ile744Val) rs112005830 0.00087
NM_014795.4(ZEB2):c.1161A>G (p.Leu387=) rs146673563 0.00084
NM_014795.4(ZEB2):c.798G>C (p.Gly266=) rs34961586 0.00078
NM_014795.4(ZEB2):c.2206A>G (p.Met736Val) rs139191491 0.00067
NM_014795.4(ZEB2):c.2205T>C (p.Pro735=) rs149964599 0.00062
NM_014795.4(ZEB2):c.1306A>G (p.Met436Val) rs145812868 0.00052
NM_014795.4(ZEB2):c.1276T>A (p.Leu426Ile) rs201881288 0.00036
NM_014795.4(ZEB2):c.759C>T (p.Arg253=) rs150853991 0.00033
NM_014795.4(ZEB2):c.2601G>A (p.Lys867=) rs139369265 0.00029
NM_014795.4(ZEB2):c.1438G>T (p.Ala480Ser) rs143854197 0.00026
NM_014795.4(ZEB2):c.1735A>G (p.Thr579Ala) rs140593583 0.00026
NM_014795.4(ZEB2):c.2142G>A (p.Pro714=) rs201180901 0.00025
NM_014795.4(ZEB2):c.462G>A (p.Glu154=) rs372940559 0.00023
NM_014795.4(ZEB2):c.304A>T (p.Ile102Phe) rs201109457 0.00022
NM_014795.4(ZEB2):c.10C>G (p.Pro4Ala) rs146394306 0.00015
NM_014795.4(ZEB2):c.1848T>G (p.Pro616=) rs144835963 0.00014
NM_014795.4(ZEB2):c.2457A>G (p.Ser819=) rs144184948 0.00014
NM_014795.4(ZEB2):c.2973C>T (p.Ile991=) rs572507342 0.00014
NM_014795.4(ZEB2):c.3640A>G (p.Met1214Val) rs199951665 0.00014
NM_014795.4(ZEB2):c.2084G>A (p.Arg695Gln) rs147693839 0.00012
NM_014795.4(ZEB2):c.1840C>T (p.Leu614=) rs145201706 0.00011
NM_014795.4(ZEB2):c.1587G>A (p.Thr529=) rs148709333 0.00010
NM_014795.4(ZEB2):c.3219C>T (p.His1073=) rs139944383 0.00009
NM_014795.4(ZEB2):c.73+6A>C rs756924190 0.00008
NM_014795.4(ZEB2):c.297C>T (p.Asn99=) rs147603619 0.00007
NM_014795.4(ZEB2):c.1221C>T (p.His407=) rs144613207 0.00006
NM_014795.4(ZEB2):c.2275A>G (p.Arg759Gly) rs748354087 0.00006
NM_014795.4(ZEB2):c.2361T>C (p.Asn787=) rs201567433 0.00006
NM_014795.4(ZEB2):c.2855G>C (p.Arg952Thr) rs151256895 0.00006
NM_014795.4(ZEB2):c.1876G>A (p.Gly626Arg) rs727504224 0.00005
NM_014795.4(ZEB2):c.219C>T (p.His73=) rs778851716 0.00005
NM_014795.4(ZEB2):c.295A>G (p.Asn99Asp) rs150665982 0.00005
NM_014795.4(ZEB2):c.375G>A (p.Thr125=) rs138389836 0.00005
NM_014795.4(ZEB2):c.332-6C>T rs730881186 0.00004
NM_014795.4(ZEB2):c.374C>T (p.Thr125Met) rs727504227 0.00004
NM_014795.4(ZEB2):c.395A>G (p.Asn132Ser) rs369622877 0.00004
NM_014795.4(ZEB2):c.466C>T (p.Arg156Cys) rs147021269 0.00004
NM_014795.4(ZEB2):c.768C>T (p.Leu256=) rs370751674 0.00004
NM_014795.4(ZEB2):c.1533C>T (p.Val511=) rs587780994 0.00003
NM_014795.4(ZEB2):c.1836G>A (p.Ala612=) rs754916469 0.00003
NM_014795.4(ZEB2):c.2255C>T (p.Thr752Met) rs143438888 0.00003
NM_014795.4(ZEB2):c.2300C>T (p.Thr767Ile) rs755233964 0.00003
NM_014795.4(ZEB2):c.2541C>T (p.Asn847=) rs759097498 0.00003
NM_014795.4(ZEB2):c.2870G>A (p.Arg957Gln) rs371509136 0.00003
NM_014795.4(ZEB2):c.2886+4A>C rs754532627 0.00003
NM_014795.4(ZEB2):c.3444C>T (p.Tyr1148=) rs374141392 0.00003
NM_014795.4(ZEB2):c.1049C>T (p.Thr350Met) rs975397942 0.00002
NM_014795.4(ZEB2):c.1336C>T (p.Pro446Ser) rs1435380197 0.00002
NM_014795.4(ZEB2):c.220G>A (p.Val74Met) rs767169568 0.00002
NM_014795.4(ZEB2):c.2215A>G (p.Ile739Val) rs730881178 0.00002
NM_014795.4(ZEB2):c.2248A>G (p.Ser750Gly) rs730881196 0.00002
NM_014795.4(ZEB2):c.2352T>C (p.Ser784=) rs201990887 0.00002
NM_014795.4(ZEB2):c.2766A>T (p.Pro922=) rs185223937 0.00002
NM_014795.4(ZEB2):c.981G>A (p.Ser327=) rs201579452 0.00002
NM_014795.4(ZEB2):c.1288C>T (p.Pro430Ser) rs753804606 0.00001
NM_014795.4(ZEB2):c.139G>T (p.Ala47Ser) rs730881184 0.00001
NM_014795.4(ZEB2):c.150C>T (p.Asp50=) rs587780996 0.00001
NM_014795.4(ZEB2):c.179C>T (p.Thr60Met) rs780890592 0.00001
NM_014795.4(ZEB2):c.1877G>A (p.Gly626Glu) rs794727923 0.00001
NM_014795.4(ZEB2):c.1880T>A (p.Val627Asp) rs730881176 0.00001
NM_014795.4(ZEB2):c.2004G>T (p.Glu668Asp) rs767506087 0.00001
NM_014795.4(ZEB2):c.2203C>T (p.Pro735Ser) rs144154908 0.00001
NM_014795.4(ZEB2):c.2390A>G (p.His797Arg) rs201227541 0.00001
NM_014795.4(ZEB2):c.2497A>G (p.Thr833Ala) rs1490526407 0.00001
NM_014795.4(ZEB2):c.2622T>A (p.Asn874Lys) rs745927130 0.00001
NM_014795.4(ZEB2):c.26G>A (p.Gly9Asp) rs1242134764 0.00001
NM_014795.4(ZEB2):c.2804T>C (p.Met935Thr) rs201902790 0.00001
NM_014795.4(ZEB2):c.385G>A (p.Ala129Thr) rs730881187 0.00001
NM_014795.4(ZEB2):c.430T>A (p.Phe144Ile) rs1057518371 0.00001
NM_014795.4(ZEB2):c.469G>A (p.Asp157Asn) rs1703365159 0.00001
NM_014795.4(ZEB2):c.773G>A (p.Arg258Gln) rs730881173 0.00001
NM_014795.4(ZEB2):c.1027C>T (p.Arg343Ter) rs786204815
NM_014795.4(ZEB2):c.1102C>T (p.Gln368Ter) rs886041338
NM_014795.4(ZEB2):c.1283T>C (p.Val428Ala) rs730881192
NM_014795.4(ZEB2):c.1381C>T (p.Gln461Ter) rs398124274
NM_014795.4(ZEB2):c.1410T>A (p.Thr470=) rs34890427
NM_014795.4(ZEB2):c.1426dup (p.Met476fs) rs587776604
NM_014795.4(ZEB2):c.1446A>C (p.Glu482Asp) rs886043609
NM_014795.4(ZEB2):c.1534G>A (p.Gly512Ser) rs141781307
NM_014795.4(ZEB2):c.1542G>A (p.Pro514=) rs141674976
NM_014795.4(ZEB2):c.1542G>T (p.Pro514=) rs141674976
NM_014795.4(ZEB2):c.1956C>A (p.Tyr652Ter) rs587784563
NM_014795.4(ZEB2):c.1993A>G (p.Met665Val) rs1388932284
NM_014795.4(ZEB2):c.2083C>T (p.Arg695Ter) rs137852981
NM_014795.4(ZEB2):c.2226A>T (p.Pro742=) rs540345773
NM_014795.4(ZEB2):c.2255C>G (p.Thr752Arg) rs143438888
NM_014795.4(ZEB2):c.2281A>T (p.Thr761Ser) rs867243713
NM_014795.4(ZEB2):c.2471T>C (p.Met824Thr) rs1553961536
NM_014795.4(ZEB2):c.2486G>A (p.Ser829Asn) rs730881198
NM_014795.4(ZEB2):c.2495C>A (p.Ala832Asp) rs730881179
NM_014795.4(ZEB2):c.2501del (p.Lys834fs) rs587784565
NM_014795.4(ZEB2):c.2538T>A (p.His846Gln) rs557767273
NM_014795.4(ZEB2):c.2627A>G (p.Asp876Gly) rs779103467
NM_014795.4(ZEB2):c.2641A>C (p.Asn881His) rs794727922
NM_014795.4(ZEB2):c.2707G>T (p.Ala903Ser) rs730881200
NM_014795.4(ZEB2):c.2761C>T (p.Arg921Ter) rs587784566
NM_014795.4(ZEB2):c.2847G>A (p.Met949Ile) rs1703257497
NM_014795.4(ZEB2):c.2894T>A (p.Leu965Ter) rs797046120
NM_014795.4(ZEB2):c.289del (p.Trp97fs) rs727503784
NM_014795.4(ZEB2):c.3046C>T (p.Arg1016Ter) rs886041989
NM_014795.4(ZEB2):c.3067+6A>T rs143450927
NM_014795.4(ZEB2):c.314C>T (p.Ala105Val) rs730881207
NM_014795.4(ZEB2):c.349T>C (p.Tyr117His) rs1057522108
NM_014795.4(ZEB2):c.3538C>G (p.Arg1180Gly) rs756424812
NM_014795.4(ZEB2):c.3557G>T (p.Gly1186Val) rs748213160
NM_014795.4(ZEB2):c.422C>T (p.Thr141Ile) rs1703366182
NM_014795.4(ZEB2):c.643_659del (p.Tyr215fs) rs398124281
NM_014795.4(ZEB2):c.674C>A (p.Ser225Ter) rs797046122
NM_014795.4(ZEB2):c.702C>T (p.His234=) rs140169964
NM_014795.4(ZEB2):c.73+2T>C rs398124282
NM_014795.4(ZEB2):c.74-3C>T rs984545941
NM_014795.4(ZEB2):c.797G>A (p.Gly266Glu) rs1057522361
NM_014795.4(ZEB2):c.823C>T (p.Gln275Ter) rs587784570
NM_014795.4(ZEB2):c.82_87del (p.Tyr28_Asp29del) rs730881214
NM_014795.4(ZEB2):c.904C>T (p.Arg302Ter) rs587784571
NM_014795.4(ZEB2):c.905G>A (p.Arg302Gln) rs730881174
NM_014795.4(ZEB2):c.917G>A (p.Gly306Asp) rs1703292916
NM_014795.4(ZEB2):c.9G>A (p.Gln3=) rs149882004
NM_014795.4(ZEB2):c.9G>C (p.Gln3His) rs149882004
NM_014795.4:c.593-18_593-17insTG rs2149879288

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