List of variants reported as pathogenic for Waardenburg syndrome type 4A

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Total variants: 11

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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.292G>T (p.Glu98Ter)
NM_001122659.3(EDNRB):c.521del (p.Cys174fs)	rs1458799604
NM_001122659.3(EDNRB):c.548C>G (p.Ala183Gly)	rs104894388
NM_001122659.3(EDNRB):c.57C>A (p.Cys19Ter)	rs768126403
NM_001122659.3(EDNRB):c.601C>T (p.Arg201Ter)	rs104894391
NM_001122659.3(EDNRB):c.677G>A (p.Trp226Ter)
NM_001122659.3(EDNRB):c.757C>T (p.Arg253Ter)	rs104894390
NM_001122659.3(EDNRB):c.902del (p.Met300_Leu301insTer)
NM_006941.4(SOX10):c.1315_1329del (p.Ile439_Ser443del)	rs1569167515
NM_006941.4(SOX10):c.429-1G>A	rs1569169328

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