ClinVar Miner

List of variants reported as risk factor for Hirschsprung disease 4

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Total variants: 3
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HGVS dbSNP
NM_207034.3(EDN3):c.262dup (p.Ala88fs) rs1568823467
NM_207034.3(EDN3):c.49G>A (p.Ala17Thr) rs11570255
NM_207034.3(EDN3):c.670G>A (p.Ala224Thr) rs11570351

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