ClinVar Miner

List of variants in gene ECE1 reported as likely pathogenic for Hirschsprung disease, susceptibility to

Included ClinVar conditions (16):

ABCD syndrome; Hirschsprung disease, susceptibility to, 2; Waardenburg syndrome type 4A
Congenital central hypoventilation; Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A
Congenital central hypoventilation; Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Renal hypodysplasia/aplasia 1; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A
Hirschsprung disease
Hirschsprung disease, susceptibility to, 1
Hirschsprung disease, susceptibility to, 1; Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1; Sensorineural hearing loss disorder
Hirschsprung disease, susceptibility to, 2
Hirschsprung disease, susceptibility to, 3
Hirschsprung disease, susceptibility to, 4
Hirschsprung disease; Hyperphosphatasia with intellectual disability syndrome 2
Multiple endocrine neoplasia, type 2; Hirschsprung disease
Waardenburg syndrome type 4B; Hirschsprung disease, susceptibility to, 4

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)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001397.3(ECE1):c.1879C>T (p.Arg627Trp)	rs200894751	0.00017
NM_001397.3(ECE1):c.1067T>G (p.Phe356Cys)	rs765763704

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