ClinVar Miner

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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_207034.2(EDN3):c.-248G>A	rs542818479	0.00709
NM_207034.3(EDN3):c.565dup (p.Thr189fs)	rs11570344

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