ClinVar Miner

List of variants in gene ZEB2 studied for Inborn genetic diseases

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Total variants: 124
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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.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.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.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.2762G>A (p.Arg921Gln) rs147716561 0.00010
NM_014795.4(ZEB2):c.3219C>T (p.His1073=) rs139944383 0.00009
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.219C>T (p.His73=) rs778851716 0.00005
NM_014795.4(ZEB2):c.1482A>G (p.Pro494=) rs375275148 0.00004
NM_014795.4(ZEB2):c.1527G>A (p.Pro509=) rs759999662 0.00004
NM_014795.4(ZEB2):c.3432C>T (p.Gly1144=) rs768007761 0.00004
NM_014795.4(ZEB2):c.3451C>A (p.Leu1151Met) rs772764893 0.00004
NM_014795.4(ZEB2):c.768C>T (p.Leu256=) rs370751674 0.00004
NM_014795.4(ZEB2):c.180G>A (p.Thr60=) rs372888487 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.225C>T (p.Ser75=) rs754754722 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.2215A>G (p.Ile739Val) rs730881178 0.00002
NM_014795.4(ZEB2):c.2342A>G (p.Asn781Ser) rs750936389 0.00002
NM_014795.4(ZEB2):c.2766A>T (p.Pro922=) rs185223937 0.00002
NM_014795.4(ZEB2):c.3466G>T (p.Gly1156Cys) rs776351453 0.00002
NM_014795.4(ZEB2):c.829G>A (p.Ala277Thr) rs369668612 0.00002
NM_014795.4(ZEB2):c.97G>A (p.Asp33Asn) rs1460150528 0.00002
NM_014795.4(ZEB2):c.981G>A (p.Ser327=) rs201579452 0.00002
NM_014795.4(ZEB2):c.150C>T (p.Asp50=) rs587780996 0.00001
NM_014795.4(ZEB2):c.1554T>C (p.His518=) rs1431508601 0.00001
NM_014795.4(ZEB2):c.179C>T (p.Thr60Met) rs780890592 0.00001
NM_014795.4(ZEB2):c.2203C>T (p.Pro735Ser) rs144154908 0.00001
NM_014795.4(ZEB2):c.2256G>A (p.Thr752=) rs772121083 0.00001
NM_014795.4(ZEB2):c.2390A>G (p.His797Arg) rs201227541 0.00001
NM_014795.4(ZEB2):c.2565C>G (p.Asn855Lys) rs904620951 0.00001
NM_014795.4(ZEB2):c.2742G>A (p.Gln914=) rs780189288 0.00001
NM_014795.4(ZEB2):c.28C>T (p.Pro10Ser) rs1451219938 0.00001
NM_014795.4(ZEB2):c.2935A>G (p.Met979Val) rs777220598 0.00001
NM_014795.4(ZEB2):c.3264G>A (p.Arg1088=) rs774763773 0.00001
NM_014795.4(ZEB2):c.3337T>A (p.Leu1113Met) rs730881204 0.00001
NM_014795.4(ZEB2):c.385G>A (p.Ala129Thr) rs730881187 0.00001
NM_014795.4(ZEB2):c.1027C>T (p.Arg343Ter) rs786204815
NM_014795.4(ZEB2):c.1038C>G (p.Asn346Lys)
NM_014795.4(ZEB2):c.1092A>C (p.Ser364=) rs1560607402
NM_014795.4(ZEB2):c.1387del (p.Val463fs) rs1573717173
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.145G>A (p.Asp49Asn)
NM_014795.4(ZEB2):c.1534G>A (p.Gly512Ser) rs141781307
NM_014795.4(ZEB2):c.1537del (p.Leu513fs) rs1553961697
NM_014795.4(ZEB2):c.1541C>T (p.Pro514Leu)
NM_014795.4(ZEB2):c.166C>T (p.Leu56=)
NM_014795.4(ZEB2):c.1728C>A (p.Asn576Lys)
NM_014795.4(ZEB2):c.175G>T (p.Glu59Ter)
NM_014795.4(ZEB2):c.1801C>T (p.Arg601Cys)
NM_014795.4(ZEB2):c.1879G>A (p.Val627Ile) rs1703275164
NM_014795.4(ZEB2):c.1908G>T (p.Leu636Phe)
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.2102C>A (p.Ser701Ter) rs1703271038
NM_014795.4(ZEB2):c.2185C>A (p.Pro729Thr)
NM_014795.4(ZEB2):c.2205_2206delinsCG (p.Met736Val) rs1060500654
NM_014795.4(ZEB2):c.2255C>G (p.Thr752Arg) rs143438888
NM_014795.4(ZEB2):c.2293C>A (p.His765Asn)
NM_014795.4(ZEB2):c.2313A>G (p.Pro771=) rs1560606324
NM_014795.4(ZEB2):c.2328C>G (p.Asp776Glu) rs758848641
NM_014795.4(ZEB2):c.2425G>A (p.Glu809Lys)
NM_014795.4(ZEB2):c.2426A>T (p.Glu809Val) rs749005116
NM_014795.4(ZEB2):c.246GGAAGA[3] (p.Glu84_Glu85dup) rs781664431
NM_014795.4(ZEB2):c.2517T>C (p.Ala839=)
NM_014795.4(ZEB2):c.2539A>C (p.Asn847His)
NM_014795.4(ZEB2):c.2543G>T (p.Ser848Ile)
NM_014795.4(ZEB2):c.2549C>A (p.Ser850Tyr) rs529220318
NM_014795.4(ZEB2):c.2589T>C (p.Thr863=) rs985918539
NM_014795.4(ZEB2):c.2609C>A (p.Ser870Ter) rs1553961516
NM_014795.4(ZEB2):c.2735C>A (p.Pro912Gln) rs1560605911
NM_014795.4(ZEB2):c.2761C>T (p.Arg921Ter) rs587784566
NM_014795.4(ZEB2):c.2813C>G (p.Thr938Ser)
NM_014795.4(ZEB2):c.2894T>A (p.Leu965Ter) rs797046120
NM_014795.4(ZEB2):c.3147del (p.Ser1050fs) rs1703134890
NM_014795.4(ZEB2):c.314C>G (p.Ala105Gly)
NM_014795.4(ZEB2):c.3211T>C (p.Ser1071Pro) rs397515448
NM_014795.4(ZEB2):c.3308C>G (p.Pro1103Arg)
NM_014795.4(ZEB2):c.331+6T>C
NM_014795.4(ZEB2):c.3312C>T (p.Thr1104=) rs1403782189
NM_014795.4(ZEB2):c.3539G>A (p.Arg1180Gln)
NM_014795.4(ZEB2):c.362_363dup (p.Pro122fs)
NM_014795.4(ZEB2):c.624C>T (p.Ala208=) rs1451197588
NM_014795.4(ZEB2):c.637_640dup (p.Pro214fs)
NM_014795.4(ZEB2):c.660C>T (p.Tyr220=)
NM_014795.4(ZEB2):c.688A>G (p.Ile230Val)
NM_014795.4(ZEB2):c.702C>T (p.His234=) rs140169964
NM_014795.4(ZEB2):c.762C>T (p.Thr254=) rs771709950
NM_014795.4(ZEB2):c.807+3G>A rs144925893
NM_014795.4(ZEB2):c.823C>T (p.Gln275Ter) rs587784570
NM_014795.4(ZEB2):c.905G>A (p.Arg302Gln) rs730881174
NM_014795.4(ZEB2):c.909_910insTTTC (p.His304fs) rs1703305657
NM_014795.4(ZEB2):c.915T>C (p.Ser305=)
NM_014795.4(ZEB2):c.916+1G>A
NM_014795.4(ZEB2):c.917G>A (p.Gly306Asp) rs1703292916
NM_014795.4(ZEB2):c.9G>C (p.Gln3His) rs149882004

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