List of variants studied for Waardenburg-Shah syndrome by OMIM

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001122659.3(EDNRB):c.828G>T (p.Trp276Cys)	rs104894387	0.00003
NM_001122659.3(EDNRB):c.548C>G (p.Ala183Gly)	rs104894388
NM_001122659.3(EDNRB):c.757C>T (p.Arg253Ter)	rs104894390
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
NM_207034.3(EDN3):c.262_263delinsT (p.Ala88fs)	rs1568823517
NM_207034.3(EDN3):c.277C>G (p.Arg93Gly)	rs267606779
NM_207034.3(EDN3):c.335A>G (p.His112Arg)	rs267606778
NM_207034.3(EDN3):c.476G>T (p.Cys159Phe)	rs74315384
NM_207034.3(EDN3):c.507C>A (p.Cys169Ter)	rs74315385

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