List of variants reported as pathogenic for Waardenburg syndrome type 2A by Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 3p13(chr3:69985815-69985964)
GRCh37/hg19 3p14.1-13(chr3:69739463-69968331)
NM_001354604.2(MITF):c.1031+1G>A	rs1559749017
NM_001354604.2(MITF):c.1096C>T (p.Arg366Ter)	rs2066482593
NM_001354604.2(MITF):c.1129C>T (p.Arg377Ter)	rs876657699
NM_001354604.2(MITF):c.1198C>T (p.Arg400Ter)	rs1464157509
NM_001354604.2(MITF):c.1230G>A (p.Thr410=)	rs1057521096
NM_001354604.2(MITF):c.1273G>T (p.Glu425Ter)	rs149617956
NM_001354604.2(MITF):c.1377del (p.Asn459fs)	rs2066652447
NM_001354604.2(MITF):c.961C>T (p.Arg321Ter)	rs104893746
NM_001354604.2(MITF):c.964AGA[2] (p.Arg324del)	rs1553704814
NM_001354604.2(MITF):c.967del (p.Arg323fs)	rs2066400236
NM_001354604.2(MITF):c.969_973del (p.Arg323fs)	rs2066400330

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