List of variants reported as likely pathogenic for Waardenburg syndrome type 2A by Center for Human Genetics, Inc, Center for Human Genetics, Inc

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001354604.2(MITF):c.1031+4A>C	rs1553704850
NM_001354604.2(MITF):c.1084C>T (p.Arg362Ter)	rs1057517966
NM_001354604.2(MITF):c.730_731delinsCC (p.Leu244Pro)	rs1553702406
NM_001354604.2(MITF):c.953T>C (p.Leu318Pro)	rs1553704097

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