ClinVar Miner

List of variants in gene MMD2, RBAK, RBAK-RBAKDN studied for megacolon

Included ClinVar conditions (4):

Abnormal facial shape; Megacolon
Abnormal rectum morphology; Megacolon
Megacolon
Plagiocephaly; Global developmental delay; Pyloric stenosis; Penile hypospadias; Vesicoureteral reflux; Megacolon; Ventricular septal defect

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: 1

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NC_000007.13:g.4929022_5218030dup

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.