ClinVar Miner

List of variants in gene EDNRB reported as pathogenic for Waardenburg syndrome type 4A

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001122659.3(EDNRB):c.828G>T (p.Trp276Cys) rs104894387 0.00003
NM_001122659.3(EDNRB):c.292G>T (p.Glu98Ter)
NM_001122659.3(EDNRB):c.521del (p.Cys174fs) rs1458799604
NM_001122659.3(EDNRB):c.548C>G (p.Ala183Gly) rs104894388
NM_001122659.3(EDNRB):c.57C>A (p.Cys19Ter) rs768126403
NM_001122659.3(EDNRB):c.601C>T (p.Arg201Ter) rs104894391
NM_001122659.3(EDNRB):c.757C>T (p.Arg253Ter) rs104894390
NM_001122659.3(EDNRB):c.902del (p.Met300_Leu301insTer)

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