ClinVar Miner

List of variants studied for renal hypodysplasia/aplasia 1 by Fulgent Genetics, Fulgent Genetics

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
		ClinVar version:

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003638.3(ITGA8):c.2977A>G (p.Ile993Val)	rs9333241	0.00743
NM_003638.3(ITGA8):c.2803G>A (p.Ala935Thr)	rs77037561	0.00722
NM_020975.6(RET):c.2410G>A (p.Val804Met)	rs79658334	0.00022
NM_003638.3(ITGA8):c.1400-11G>A	rs9333267

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.