List of variants studied for Mowat-Wilson syndrome by Revvity Omics, Revvity

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_014795.4(ZEB2):c.1034G>A (p.Arg345Lys)
NM_014795.4(ZEB2):c.1200_1201del (p.Tyr400_Lys401delinsTer)	rs2149877421
NM_014795.4(ZEB2):c.2311C>T (p.Pro771Ser)
NM_014795.4(ZEB2):c.2312C>T (p.Pro771Leu)
NM_014795.4(ZEB2):c.2761C>T (p.Arg921Ter)	rs587784566
NM_014795.4(ZEB2):c.2865C>G (p.Tyr955Ter)	rs2149876315
NM_014795.4(ZEB2):c.3046C>T (p.Arg1016Ter)	rs886041989
NM_014795.4(ZEB2):c.639C>A (p.Cys213Ter)	rs1451961075
NM_014795.4(ZEB2):c.82_87del (p.Tyr28_Asp29del)	rs730881214
NM_014795.4(ZEB2):c.904C>T (p.Arg302Ter)	rs587784571
NM_014795.4(ZEB2):c.905G>A (p.Arg302Gln)	rs730881174

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