ClinVar Miner

List of variants reported as pathogenic for Waardenburg syndrome type 4A by Center for Human Genetics, Inc,Center for Human Genetics, Inc

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Total variants: 3

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HGVS	dbSNP
NM_001122659.3(EDNRB):c.521del (p.Cys174fs)	rs1458799604
NM_001122659.3(EDNRB):c.601C>T (p.Arg201Ter)	rs104894391
NM_001122659.3(EDNRB):c.828G>T (p.Trp276Cys)	rs104894387

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