ClinVar Miner

List of variants in gene EDN3 reported as likely benign for Hirschsprung Disease, Dominant

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Gene type:
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Total variants: 21
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HGVS dbSNP
NM_207034.2(EDN3):c.-248G>A rs542818479
NM_207034.3(EDN3):c.*1012C>T rs11570358
NM_207034.3(EDN3):c.*1147A>G rs3026571
NM_207034.3(EDN3):c.*143C>A rs71321536
NM_207034.3(EDN3):c.*146C>T rs11570352
NM_207034.3(EDN3):c.*171G>A rs3026575
NM_207034.3(EDN3):c.*177C>A rs11570354
NM_207034.3(EDN3):c.*355A>G rs79786751
NM_207034.3(EDN3):c.*531A>G rs11570355
NM_207034.3(EDN3):c.*600A>G rs11570356
NM_207034.3(EDN3):c.*864C>G rs3026573
NM_207034.3(EDN3):c.*915C>T rs11570357
NM_207034.3(EDN3):c.*957C>T rs3026572
NM_207034.3(EDN3):c.*962C>T rs138371508
NM_207034.3(EDN3):c.-77T>A rs11570254
NM_207034.3(EDN3):c.293C>A (p.Thr98Lys) rs745795470
NM_207034.3(EDN3):c.426G>A (p.Ala142=) rs187049336
NM_207034.3(EDN3):c.49G>A (p.Ala17Thr) rs11570255
NM_207034.3(EDN3):c.525A>G (p.Gln175=) rs34780366
NM_207034.3(EDN3):c.565dup (p.Thr189fs) rs11570344
NM_207034.3(EDN3):c.689G>A (p.Arg230His) rs144250756

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