List of variants reported as pathogenic for anophthalmia/microphthalmia-esophageal atresia syndrome by OMIM

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

Total variants: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NC_000003.12:g.(179547548_181649736)_(181808821_182152788)del
NM_003106.4(SOX2):c.138T>G (p.Asn46Lys)	rs104893806
NM_003106.4(SOX2):c.143_144delinsAA (p.Phe48Ter)	rs398122915
NM_003106.4(SOX2):c.163C>T (p.Gln55Ter)	rs104893804
NM_003106.4(SOX2):c.221G>C (p.Arg74Pro)	rs104893805
NM_003106.4(SOX2):c.245T>A (p.Leu82Ter)	rs387906688
NM_003106.4(SOX2):c.248C>A (p.Ser83Ter)	rs104893801
NM_003106.4(SOX2):c.277G>T (p.Glu93Ter)	rs104893800
NM_003106.4(SOX2):c.290T>C (p.Leu97Pro)	rs104893802
NM_003106.4(SOX2):c.463C>T (p.Gln155Ter)	rs104893803
NM_003106.4(SOX2):c.529C>T (p.Gln177Ter)	rs104893799
NM_003106.4(SOX2):c.551del (p.Pro184fs)	rs587776776
NM_003106.4(SOX2):c.58_59dup (p.Gly21fs)	rs398122803
NM_003106.4(SOX2):c.59dup (p.Gly21fs)	rs398122803
NM_003106.4(SOX2):c.70_86del (p.Asn24fs)	rs1553862927
NM_003106.4(SOX2):c.70_89del (p.Asn24fs)	rs398123693
NM_003106.4(SOX2):c.837del (p.Gly280fs)	rs398122916

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.