ClinVar Miner

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

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Total variants: 6
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HGVS dbSNP gnomAD frequency
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

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