ClinVar Miner

List of variants reported as pathogenic for Waardenburg syndrome type 4A by OMIM

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Total variants: 3

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HGVS	dbSNP
NM_001122659.3(EDNRB):c.548C>G (p.Ala183Gly)	rs104894388
NM_001122659.3(EDNRB):c.757C>T (p.Arg253Ter)	rs104894390
NM_001122659.3(EDNRB):c.828G>T (p.Trp276Cys)	rs104894387

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