ClinVar Miner

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

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001354604.2(MITF):c.989G>A (p.Arg330His)	rs763119975	0.00001
NM_001354604.2(MITF):c.997G>A (p.Glu333Lys)	rs147682682	0.00001
NM_001354604.2(MITF):c.1072G>A (p.Val358Met)	rs1271000541

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