ClinVar Miner

List of variants studied for Waardenburg syndrome type 2E by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_006941.4(SOX10):c.482G>A (p.Arg161His) rs750566714 0.00001
NM_006941.4(SOX10):c.1086dup (p.Pro363fs) rs2145761047
NM_006941.4(SOX10):c.428+2T>G

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