ClinVar Miner

List of variants reported as pathogenic for Mowat-Wilson syndrome by Baylor Genetics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_014795.4(ZEB2):c.1653del (p.Ser552fs) rs786204820
NM_014795.4(ZEB2):c.2083C>T (p.Arg695Ter) rs137852981
NM_014795.4(ZEB2):c.2757del (p.Leu920fs) rs1560605892
NM_014795.4(ZEB2):c.2886+1G>A rs1703257054
NM_014795.4(ZEB2):c.331+1G>T rs1703742764
NM_014795.4(ZEB2):c.502C>T (p.Gln168Ter) rs1560609721
NM_014795.4(ZEB2):c.643_659del (p.Tyr215fs) rs398124281
NM_014795.4(ZEB2):c.962_970delinsC (p.His321fs)

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