ClinVar Miner

List of variants reported as pathogenic for achromatopsia 4 by Institute for Ophthalmic Research,University Tuebingen

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
NM_005272.4(GNAT2):c.235C>T (p.Gln79Ter) rs121434585
NM_005272.4(GNAT2):c.285_291delinsCTGTAT (p.Ala96fs) rs1557920291
NM_005272.4(GNAT2):c.313C>T (p.Arg105Ter) rs1403825722
NM_005272.4(GNAT2):c.481C>T (p.Arg161Ter) rs745308973
NM_005272.4(GNAT2):c.503dup (p.Pro169_Ser170insTer) rs1557918911
NM_005272.4(GNAT2):c.591-2A>C rs1557918638
NM_005272.4(GNAT2):c.720+2T>C rs1557918544
NM_005272.4(GNAT2):c.803_806dup (p.Lys270fs) rs1557917899
NM_005272.4(GNAT2):c.955del (p.Ile319fs) rs1557917535

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.