ClinVar Miner

List of variants reported as pathogenic for Waardenburg syndrome; Rare genetic deafness

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001127366.2(PAX3):c.(?_-77)_(583_?)+547del
NM_181458.4(PAX3):c.668G>A (p.Arg223Gln)	rs876657717
NM_181458.4(PAX3):c.879dup (p.Phe294fs)	rs1553572967

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