List of variants reported as uncertain significance for Waardenburg syndrome type 4A

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001122659.3(EDNRB):c.-26G>A	rs2070591	0.00057
NM_001122659.3(EDNRB):c.973G>A (p.Val325Ile)	rs201437745	0.00002
NM_001122659.3(EDNRB):c.403G>A (p.Gly135Ser)	rs760677132	0.00001
NM_001122659.3(EDNRB):c.791C>T (p.Ala264Val)	rs1212186974	0.00001
NM_001201397.2(EDNRB):c.18T>A (p.Cys6Ter)	rs199927859	0.00001
NM_001122659.3(EDNRB):c.1103A>T (p.Asp368Val)	rs2137603390
NM_001122659.3(EDNRB):c.1265_1283del (p.Lys422fs)	rs2137599519
NM_001122659.3(EDNRB):c.41C>T (p.Ala14Val)
NM_001122659.3(EDNRB):c.688G>C (p.Val230Leu)	rs2501547086
NM_001122659.3(EDNRB):c.886A>G (p.Met296Val)	rs765490586

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