ClinVar Miner

List of variants reported as pathogenic for Duane retraction syndrome by OMIM

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP
COL25A1, 12.4-KB DEL
NM_001822.7(CHN1):c.378T>G (p.Ile126Met) rs121912793
NM_001822.7(CHN1):c.422C>T (p.Pro141Leu) rs387906599
NM_001822.7(CHN1):c.427T>C (p.Tyr143His) rs121912794
NM_001822.7(CHN1):c.60A>T (p.Leu20Phe) rs121912792
NM_001822.7(CHN1):c.668C>T (p.Ala223Val) rs121912795
NM_001822.7(CHN1):c.682G>A (p.Gly228Ser) rs121912796
NM_001822.7(CHN1):c.754C>T (p.Pro252Ser) rs387906600
NM_001822.7(CHN1):c.755C>A (p.Pro252Gln) rs121912797
NM_001822.7(CHN1):c.937G>A (p.Glu313Lys) rs121912798
NM_005461.5(MAFB):c.803del (p.Asn268fs) rs879255275
NM_198721.4(COL25A1):c.1144G>A (p.Gly382Arg) rs780209390
NM_198721.4(COL25A1):c.1489G>T (p.Gly497Ter) rs886037741

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.