List of variants reported as pathogenic for Mowat-Wilson syndrome by Genetic Services Laboratory, University of Chicago

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_014795.4(ZEB2):c.1027C>T (p.Arg343Ter)	rs786204815
NM_014795.4(ZEB2):c.1106T>A (p.Leu369Ter)	rs797046117
NM_014795.4(ZEB2):c.1426dup (p.Met476fs)	rs587776604
NM_014795.4(ZEB2):c.1489C>T (p.Gln497Ter)	rs1553961702
NM_014795.4(ZEB2):c.1956C>A (p.Tyr652Ter)	rs587784563
NM_014795.4(ZEB2):c.2061del (p.Phe687fs)	rs797046118
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.2404_2407del (p.Thr802fs)	rs797046119
NM_014795.4(ZEB2):c.2501del (p.Lys834fs)	rs587784565
NM_014795.4(ZEB2):c.2761C>T (p.Arg921Ter)	rs587784566
NM_014795.4(ZEB2):c.2894T>A (p.Leu965Ter)	rs797046120
NM_014795.4(ZEB2):c.3109A>T (p.Lys1037Ter)	rs1553960793
NM_014795.4(ZEB2):c.3137C>A (p.Ser1046Ter)	rs797046121
NM_014795.4(ZEB2):c.550_568del (p.Ser184fs)	rs587784568
NM_014795.4(ZEB2):c.674C>A (p.Ser225Ter)	rs797046122
NM_014795.4(ZEB2):c.823C>T (p.Gln275Ter)	rs587784570
NM_014795.4(ZEB2):c.904C>T (p.Arg302Ter)	rs587784571

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