ClinVar Miner

List of variants studied for Waardenburg syndrome type 2E by Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_006941.4(SOX10):c.1379del (p.Tyr460fs)	rs1932122748
NM_006941.4(SOX10):c.479T>C (p.Leu160Pro)	rs1482985217

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