ClinVar Miner

List of variants reported for Mowat-Wilson syndrome by Center for Human Genetics, Inc, Center for Human Genetics, Inc

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser) rs144952836 0.00206
NM_014795.4(ZEB2):c.2230A>G (p.Ile744Val) rs112005830 0.00087
NM_014795.4(ZEB2):c.1162C>T (p.Leu388Phe) rs1553961748
NM_014795.4(ZEB2):c.1168del (p.Ile390fs) rs1553961747
NM_014795.4(ZEB2):c.2227del (p.Ser743fs) rs1553961580
NM_014795.4(ZEB2):c.247dup (p.Glu83fs) rs1553964145
NM_014795.4(ZEB2):c.3023T>G (p.Phe1008Cys) rs1553961332
NM_014795.4(ZEB2):c.3200C>A (p.Ser1067Ter) rs1423851170

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