List of variants reported as benign by Génétique des Maladies du Développement, Hospices Civils de Lyon

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: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004208.4(AIFM1):c.911C>T (p.Thr304Met)	rs200114054	0.00001
NM_001112.4(ADARB1):c.1993G>T (p.Ala665Ser)	rs1344272743
NM_001127222.2(CACNA1A):c.6466C>G (p.Arg2156Gly)	rs554393704
NM_005249.5(FOXG1):c.1219G>C (p.Val407Leu)	rs1287203413
NM_006922.4(SCN3A):c.4213G>T (p.Ala1405Ser)	rs768382383
NM_015267.4(CUX2):c.1640G>A (p.Gly547Glu)	rs2136373939
NM_015267.4(CUX2):c.760G>A (p.Glu254Lys)	rs1886461979
NM_031844.3(HNRNPU):c.2464C>T (p.Gln822Ter)	rs542905297

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.