ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_014795.4(ZEB2):c.178_190delinsGTT (p.Thr60fs) rs730881215
NM_014795.4(ZEB2):c.2228_2229del (p.Ser743fs) rs730881211
NM_014795.4(ZEB2):c.289del (p.Trp97fs) rs727503784
NM_014795.4(ZEB2):c.3002del (p.Cys1001fs) rs730881212
NM_014795.4(ZEB2):c.3073del (p.Arg1025fs) rs730881217
NM_014795.4(ZEB2):c.3195dup (p.His1066fs) rs730881213
NM_014795.4(ZEB2):c.3499del (p.Ser1167fs) rs730881218
NM_014795.4(ZEB2):c.999del (p.Lys333fs) rs730881208

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