ClinVar Miner

List of variants in gene DENND3 studied 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
		ClinVar version:

Total variants: 3

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.2160del (p.Lys720fs)	rs1057519052
NM_001352890.3(DENND3):c.3330G>A (p.Pro1110=)	rs1045303

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