List of variants in gene ALX4 reported as likely benign for central nervous system malformation

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

Total variants: 19

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_021926.4(ALX4):c.*290T>C	rs7128671	0.00637
NM_021926.4(ALX4):c.*2349C>A	rs139570599	0.00210
NM_021926.4(ALX4):c.*899C>T	rs543627488	0.00113
NM_021926.4(ALX4):c.*3805G>A	rs373307279	0.00108
NM_021926.4(ALX4):c.1035C>T (p.Ser345=)	rs140652481	0.00064
NM_021926.4(ALX4):c.917C>T (p.Pro306Leu)	rs149897209	0.00052
NM_021926.4(ALX4):c.1182G>A (p.Ala394=)	rs149365713	0.00031
NM_021926.4(ALX4):c.1149C>T (p.Asn383=)	rs376675326	0.00016
NM_021926.4(ALX4):c.188G>A (p.Arg63Gln)	rs372830230	0.00016
NM_021926.4(ALX4):c.728C>T (p.Ala243Val)	rs145166164	0.00013
NM_021926.4(ALX4):c.*563C>T	rs574340639	0.00011
NM_021926.4(ALX4):c.*407G>A	rs539799951	0.00009
NM_021926.4(ALX4):c.217C>T (p.Leu73=)	rs766525768	0.00009
NM_021926.4(ALX4):c.*196C>T	rs189945537	0.00005
NM_021926.4(ALX4):c.1218C>T (p.Ala406=)	rs745849255	0.00002
NM_021926.4(ALX4):c.*25C>T	rs780898515	0.00001
NM_021926.4(ALX4):c.*2861C>A	rs192487688
NM_021926.4(ALX4):c.*424dup	rs113592690
NM_021926.4(ALX4):c.*804AAG[1]	rs149719812

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.