ClinVar Miner

List of variants in gene combination FOXE3, LINC01389 reported as pathogenic for congenital primary aphakia

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012186.3(FOXE3):c.720C>A (p.Cys240Ter) rs80358194 0.00016
NM_012186.3(FOXE3):c.232G>A (p.Ala78Thr) rs377669670 0.00007
NM_012186.3(FOXE3):c.457G>C (p.Asp153His) rs367943249 0.00006
NM_012186.3(FOXE3):c.244A>G (p.Met82Val) rs746531116 0.00005
NM_012186.3(FOXE3):c.291C>G (p.Ile97Met) rs762006562 0.00002
NM_012186.3(FOXE3):c.632C>A (p.Ser211Ter) rs1035206433 0.00002
NM_012186.3(FOXE3):c.343_347del (p.Trp115fs) rs958241794 0.00001
NM_012186.3(FOXE3):c.145G>T (p.Gly49Ter)
NM_012186.3(FOXE3):c.148_170dup (p.Gly58fs) rs2124041750
NM_012186.3(FOXE3):c.21_24del (p.Met7fs) rs1464817302
NM_012186.3(FOXE3):c.222C>G (p.Tyr74Ter)
NM_012186.3(FOXE3):c.289A>G (p.Ile97Val) rs774505755
NM_012186.3(FOXE3):c.393_419delinsCGGCCAGTGCTCCTTTATCCATGGGAGCTGGGAATAATCCCAGAGAGCAGACAACCTGCTGCTCAGATACATTCACACAAGTGTGTACACACACATGCCCAGCCCATCTCGTCTCTACCAGGCTGAGATGCAGGAGATGGCATTTGACTAGGCCTACTATGTGCACAGCTATGGCTGAATCACTTCCTTTTTAAAACAAAATTGTGTTAGCCACTAATCCTGCTGGAGAATCACTTCCTAATCCCATTTCATGAACTTCTGATTGATGTCTCACAAGGAGGTTCACCC (p.Lys131_Gly140delinsAsnGlyGlnCysSerPheIleHisGlySerTrpGluTer)
NM_012186.3(FOXE3):c.526_539del (p.Ala176fs) rs2124043258
NM_012186.3(FOXE3):c.535del (p.Ala179fs)
NM_012186.3(FOXE3):c.543del (p.Pro182fs) rs2124043339
NM_012186.3(FOXE3):c.555dup (p.Phe186fs) rs1465921700
NM_012186.3(FOXE3):c.705del (p.Glu236fs)
NM_012186.3(FOXE3):c.706G>T (p.Glu236Ter)
NM_012186.3(FOXE3):c.844_850dup (p.Glu284delinsAlaArgTer) rs1476879051
NM_012186.3(FOXE3):c.942dup (p.Leu315fs) rs1570406175
NM_012186.3(FOXE3):c.959G>T (p.Ter320Leu) rs387906793

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.