List of variants studied for Mowat-Wilson syndrome by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_014795.4(ZEB2):c.1028G>A (p.Arg343Gln)	rs746958005	0.00001
NM_014795.4(ZEB2):c.2290T>C (p.Ser764Pro)	rs2149876703
NM_014795.4(ZEB2):c.2327A>G (p.Asp776Gly)	rs1553961558
NM_014795.4(ZEB2):c.2707G>A (p.Ala903Thr)	rs730881200
NM_014795.4(ZEB2):c.3047G>A (p.Arg1016Gln)	rs2149875484
NM_014795.4(ZEB2):c.3210C>G (p.Tyr1070Ter)	rs2149872632
NM_014795.4(ZEB2):c.329del (p.Pro110fs)
NM_014795.4(ZEB2):c.3535A>G (p.Ile1179Val)	rs1360979536
NM_014795.4(ZEB2):c.703G>A (p.Glu235Lys)	rs1553962069

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