ClinVar Miner

List of variants studied for Waardenburg syndrome type 2A by Precision Medicine Center, Zhengzhou University

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001354604.2(MITF):c.1052G>A (p.Gly351Glu) rs2107536936
NM_001354604.2(MITF):c.1291dup (p.Cys431fs) rs2107552171

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