ClinVar Miner

List of variants in gene EDN3 reported as uncertain significance for Waardenburg syndrome

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Gene type:
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Total variants: 5
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HGVS dbSNP
NM_207034.3(EDN3):c.*138_*139insCC rs886056876
NM_207034.3(EDN3):c.*139_*140del rs1555850390
NM_207034.3(EDN3):c.*139del rs886056877
NM_207034.3(EDN3):c.*148_*149del rs11475273
NM_207034.3(EDN3):c.*831G>A rs886056886

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