ClinVar Miner

List of variants reported as pathogenic for Mowat-Wilson syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 101
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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.(?_144517258)_(144517420_?)del
NC_000002.12:g.(?_144517278)_(144517419_?)del
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.1077_1081del (p.Ser360fs) rs1703290664
NM_014795.4(ZEB2):c.1102C>T (p.Gln368Ter) rs886041338
NM_014795.4(ZEB2):c.1161dup (p.Leu388fs)
NM_014795.4(ZEB2):c.1242_1249del (p.Phe415fs) rs2149877380
NM_014795.4(ZEB2):c.1277T>A (p.Leu426Ter) rs786204807
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.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.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.1630_1631del (p.Thr544fs) rs2149877154
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.1770del (p.Pro591fs) rs1703277223
NM_014795.4(ZEB2):c.1866dup (p.Asn623fs) rs2149877017
NM_014795.4(ZEB2):c.1907dup (p.Leu636fs)
NM_014795.4(ZEB2):c.1910C>A (p.Ser637Ter)
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.2064del (p.Lys689fs) rs2149876861
NM_014795.4(ZEB2):c.2083C>T (p.Arg695Ter) rs137852981
NM_014795.4(ZEB2):c.2087_2088del (p.Lys696fs)
NM_014795.4(ZEB2):c.2122del (p.Leu708fs) rs2149876829
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.2242dup (p.His748fs)
NM_014795.4(ZEB2):c.2337del (p.Ser780fs) rs1560606294
NM_014795.4(ZEB2):c.234_235del (p.Leu79fs) rs1553964147
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.2476G>T (p.Glu826Ter)
NM_014795.4(ZEB2):c.2531T>G (p.Leu844Ter)
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.2645dup (p.Val883fs)
NM_014795.4(ZEB2):c.2688dup (p.Ala897fs) rs1553961510
NM_014795.4(ZEB2):c.2717del (p.Pro906fs) rs2149876411
NM_014795.4(ZEB2):c.2745del (p.Ser916fs) rs2149876398
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.289del (p.Trp97fs) rs727503784
NM_014795.4(ZEB2):c.3025C>T (p.Gln1009Ter) rs1560604977
NM_014795.4(ZEB2):c.3046C>T (p.Arg1016Ter) rs886041989
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.3134A>T (p.His1045Leu)
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.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.3210C>A (p.Tyr1070Ter)
NM_014795.4(ZEB2):c.3213_3214insGG (p.Gln1072fs)
NM_014795.4(ZEB2):c.351T>A (p.Tyr117Ter) rs1560618505
NM_014795.4(ZEB2):c.425C>G (p.Ser142Ter)
NM_014795.4(ZEB2):c.432dup (p.Glu145Ter) rs1560609810
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.585del (p.Glu196fs) rs1573722122
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.712G>T (p.Glu238Ter) rs2149879206
NM_014795.4(ZEB2):c.71dup (p.Asn24fs) rs1553971826
NM_014795.4(ZEB2):c.776dup (p.His259fs) rs1703347063
NM_014795.4(ZEB2):c.808-2A>G rs1560607925
NM_014795.4(ZEB2):c.818_821dup (p.Gln275fs) rs2149877994
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.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.917-2A>G

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