ClinVar Miner

List of variants studied for Mowat-Wilson syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_014795.4(ZEB2):c.1969T>C (p.Ser657Pro)
NM_014795.4(ZEB2):c.2083C>T (p.Arg695Ter) rs137852981
NM_014795.4(ZEB2):c.2177_2180del (p.Ser726fs) rs786204821
NM_014795.4(ZEB2):c.3067+2T>G
NM_014795.4(ZEB2):c.3539G>A (p.Arg1180Gln)

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