ClinVar Miner

List of variants reported as benign for renal hypodysplasia/aplasia 1 by Genome-Nilou Lab

Included ClinVar conditions (2):

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
Renal hypodysplasia/aplasia 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003638.3(ITGA8):c.2981T>C (p.Val994Ala)	rs1041135	0.96141
NM_003638.3(ITGA8):c.444+14G>A	rs1954181	0.77958
NM_003638.3(ITGA8):c.803-21G>C	rs7100510	0.60341

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.