ClinVar Miner

List of variants reported as pathogenic for DeSanto-Shinawi syndrome due to WAC point mutation by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_016628.5(WAC):c.1830_1833dup (p.Val612fs)	rs2492226994
NM_016628.5(WAC):c.1864C>T (p.Arg622Ter)	rs774496658
NM_016628.5(WAC):c.284dup (p.Tyr95Ter)	rs2491926489

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