List of variants in gene EDN3 studied 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
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_207034.2(EDN3):c.-248G>A	rs542818479	0.00709
NM_207034.2(EDN3):c.-359T>A	rs886056871	0.00046
NM_207034.2(EDN3):c.-268G>C	rs868738564	0.00006
NM_207034.3(EDN3):c.*139del	rs886056877	0.00005
NM_207034.3(EDN3):c.*831G>A	rs886056886	0.00003
NM_207034.3(EDN3):c.138_139insCC	rs886056876
NM_207034.3(EDN3):c.139_140del	rs1555850390
NM_207034.3(EDN3):c.148_149del	rs11475273
NM_207034.3(EDN3):c.565dup (p.Thr189fs)	rs11570344

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