ClinVar Miner

List of variants reported as pathogenic for Waardenburg syndrome type 3

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_181458.4(PAX3):c.139A>C (p.Asn47His) rs104893653
NM_181458.4(PAX3):c.251C>T (p.Ser84Phe) rs104893651
NM_181458.4(PAX3):c.268T>C (p.Tyr90His) rs104893654
NM_181458.4(PAX3):c.386_398del (p.Phe129fs) rs1559318494
NM_181458.4(PAX3):c.667C>T (p.Arg223Ter) rs772241382
NM_181458.4(PAX3):c.829C>T (p.Gln277Ter) rs2106074565

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