List of variants reported as pathogenic for Waardenburg syndrome type 2A by Laboratory of Prof. Karen Avraham, Tel Aviv University

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001354604.2(MITF):c.1000dup (p.Leu334fs)	rs1576047519
NM_001354604.2(MITF):c.1039C>G (p.Arg347Gly)	rs1559751245
NM_001354604.2(MITF):c.1208del (p.Gly403fs)	rs878853234
NM_001354604.2(MITF):c.953T>C (p.Leu318Pro)	rs1553704097

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