ClinVar Miner

List of variants in gene combination LOC111721705, ZEB2 reported as pathogenic for Mowat-Wilson syndrome

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Total variants: 5
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HGVS dbSNP gnomAD frequency
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

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