ClinVar Miner

List of variants studied for Waardenburg syndrome type 2A by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001354604.2(MITF):c.808C>T (p.Leu270=) rs1439150504
NM_001354604.2(MITF):c.950A>G (p.Asn317Ser) rs2066265350

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