List of variants in gene combination POLR2F, SOX10 reported as pathogenic for Waardenburg syndrome type 4C

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_006941.4(SOX10):c.1077_1078del (p.Glu359fs)	rs397515367
NM_006941.4(SOX10):c.1090C>T (p.Gln364Ter)	rs1555937400
NM_006941.4(SOX10):c.1129C>T (p.Gln377Ter)	rs74315520
NM_006941.4(SOX10):c.1205_1209del (p.Asp401_Tyr402insTer)	rs1569167586
NM_006941.4(SOX10):c.127C>T (p.Arg43Ter)	rs1555939523
NM_006941.4(SOX10):c.249C>G (p.Tyr83Ter)	rs73415876
NM_006941.4(SOX10):c.376_377insG (p.Tyr126Ter)
NM_006941.4(SOX10):c.448A>G (p.Lys150Glu)	rs1932280017
NM_006941.4(SOX10):c.44_62del (p.Val15fs)	rs1555939564
NM_006941.4(SOX10):c.470C>T (p.Ala157Val)	rs121909117
NM_006941.4(SOX10):c.479T>C (p.Leu160Pro)	rs1482985217
NM_006941.4(SOX10):c.482_483insGCTCCT (p.Arg161_Met162insLeuLeu)	rs397515366
NM_006941.4(SOX10):c.520C>T (p.Gln174Ter)	rs2145768481
NM_006941.4(SOX10):c.565G>T (p.Glu189Ter)	rs74315514
NM_006941.4(SOX10):c.570C>A (p.Cys190Ter)	rs756120041
NM_006941.4(SOX10):c.621C>G (p.Tyr207Ter)	rs281797260
NM_006941.4(SOX10):c.698-740_1085delinsCCT
NM_006941.4(SOX10):c.89C>A (p.Ser30Ter)	rs1932477493

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