ClinVar Miner

List of variants in gene DENND3 reported as uncertain significance for Hirschsprung disease, susceptibility to, 1

Included ClinVar conditions (11):

Aganglionic megacolon
Aganglionic megacolon; Hyperphosphatasia with intellectual disability syndrome 2
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, 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
Multiple endocrine neoplasia, type 2; Aganglionic megacolon

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

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001352890.3(DENND3):c.1350C>T (p.Phe450=)	rs2289001	0.26784
NM_001352890.3(DENND3):c.3330G>A (p.Pro1110=)	rs1045303

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.