ClinVar Miner

List of variants in gene combination FOXE3, LINC01389 reported as benign for anterior segment dysgenesis

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012186.3(FOXE3):c.510C>T (p.Ala170=) rs34082359 0.30139
NM_012186.3(FOXE3):c.146G>C (p.Gly49Ala) rs566961335 0.01396
NM_012186.3(FOXE3):c.423G>A (p.Lys141=) rs145081583 0.01025
NM_012186.3(FOXE3):c.16G>A (p.Asp6Asn) rs765169217 0.00868
NM_012186.3(FOXE3):c.618C>G (p.Ala206=) rs189628587 0.00737
NM_012186.3(FOXE3):c.587G>C (p.Gly196Ala) rs281865461 0.00458
NM_012186.3(FOXE3):c.898A>G (p.Ser300Gly) rs552420470 0.00350
NM_012186.3(FOXE3):c.601G>A (p.Val201Met) rs530072475 0.00329
NM_012186.3(FOXE3):c.276C>T (p.Leu92=) rs143712915 0.00134
NM_012186.3(FOXE3):c.929G>A (p.Gly310Asp) rs571095192 0.00064
NM_012186.3(FOXE3):c.158C>T (p.Pro53Leu) rs534479543 0.00050
NM_012186.3(FOXE3):c.234G>A (p.Ala78=) rs201158701 0.00027
NM_012186.3(FOXE3):c.831C>T (p.Gly277=) rs527783871 0.00025
NM_012186.3(FOXE3):c.135G>A (p.Ala45=) rs886044273 0.00005

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.