ClinVar Miner

List of variants reported as likely benign for Waardenburg syndrome type 1

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_181458.4(PAX3):c.944C>A (p.Thr315Lys)	rs2234675	0.02573
NM_181458.4(PAX3):c.525G>C (p.Lys175Asn)	rs116473352	0.00287
NM_181458.4(PAX3):c.1195C>G (p.His399Asp)	rs1553568937

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