ClinVar Miner

List of variants reported as likely pathogenic for Anophthalmia-microphthalmia syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NC_000014.9:g.(?_56801715)_(56802375_?)del
NM_000264.5(PTCH1):c.2332A>C (p.Thr778Pro) rs869025270
NM_000264.5(PTCH1):c.3191C>T (p.Thr1064Met) rs368417828
NM_000264.5(PTCH1):c.3241G>A (p.Val1081Met) rs587778629
NM_001083602.2(PTCH1):c.-346del rs752765582
NM_021728.4(OTX2):c.632C>A (p.Ser211Ter)
NM_021728.4(OTX2):c.730G>T (p.Ala244Ser) rs1594952158
NM_058238.3(WNT7B):c.739C>T (p.Arg247Trp) rs1475762618

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.