List of variants reported as pathogenic for Waardenburg syndrome type 4C by OMIM

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_006941.4(SOX10):c.1077_1078del (p.Glu359fs)	rs397515367
NM_006941.4(SOX10):c.1129C>T (p.Gln377Ter)	rs74315520
NM_006941.4(SOX10):c.249C>G (p.Tyr83Ter)	rs73415876
NM_006941.4(SOX10):c.470C>T (p.Ala157Val)	rs121909117
NM_006941.4(SOX10):c.482_483insGCTCCT (p.Arg161_Met162insLeuLeu)	rs397515366
NM_006941.4(SOX10):c.565G>T (p.Glu189Ter)	rs74315514
NM_006941.4(SOX10):c.621C>G (p.Tyr207Ter)	rs281797260
NM_006941.4(SOX10):c.698-740_1085delinsCCT

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