ClinVar Miner

List of variants reported as likely pathogenic for corneal disorder by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001367624.2(ZNF469):c.19C>T (p.Arg7Ter) rs1004428835 0.00037
NM_001367624.2(ZNF469):c.10324del (p.Arg3442fs) rs756543273 0.00004
NM_001367624.2(ZNF469):c.10707C>A (p.Cys3569Ter) rs760186083 0.00001
NM_001367624.2(ZNF469):c.10332del (p.Arg3445fs) rs764470052
NM_001367624.2(ZNF469):c.4112dup (p.Pro1373fs)
NM_001367624.2(ZNF469):c.5402del (p.Val1801fs)
NM_001367624.2(ZNF469):c.5613_5622del (p.Arg1871fs)
NM_001367624.2(ZNF469):c.7874_7877dup (p.His2626fs)
NM_001367624.2(ZNF469):c.8350C>T (p.Arg2784Ter) rs1172315984
NM_001367624.2(ZNF469):c.8428del (p.Ala2810fs) rs2142312393
NM_001367624.2(ZNF469):c.9268C>T (p.Arg3090Ter) rs764139968
NM_018699.4(PRDM5):c.1513dup (p.Arg505fs)
NM_018699.4(PRDM5):c.1650C>A (p.Cys550Ter) rs755802156
NM_018699.4(PRDM5):c.1785_1786del (p.His595fs) rs1734381962
NM_018699.4(PRDM5):c.475+2T>C
NM_018699.4(PRDM5):c.658C>T (p.Gln220Ter)

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.