List of variants reported as likely pathogenic for Waardenburg syndrome type 2A by Laboratory of Human Genetics, Universidade de São Paulo

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001354604.2(MITF):c.1084C>T (p.Arg362Ter)	rs1057517966
NM_001354604.2(MITF):c.649C>T (p.Arg217Ter)	rs1553702006
NM_006941.4(SOX10):c.1091del (p.Gln364fs)	rs1555937398
NM_006941.4(SOX10):c.403A>C (p.Ser135Arg)	rs1555939415
NM_006941.4(SOX10):c.430del (p.Leu144fs)	rs1555938422
NM_006941.4(SOX10):c.44_62del (p.Val15fs)	rs1555939564

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