ClinVar Miner

List of variants reported as benign for congenital vitreoretinal dysplasia by Athena Diagnostics Inc

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP
NM_001077365.2(POMT1):c.1047= (p.Asp349=) rs3739494
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) rs11243406
NM_001077365.2(POMT1):c.1275A>G (p.Glu425=) rs62620174
NM_001077365.2(POMT1):c.699+53= rs2296949
NM_001077365.2(POMT1):c.876= (p.Thr292=) rs10901065
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile) rs4740164
NM_001079802.2(FKTN):c.1026C>A (p.Leu342=) rs17309806
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999
NM_024301.5(FKRP):c.192C>T (p.Pro64=) rs111754012
NM_024301.5(FKRP):c.585C>T (p.Asp195=) rs75079578

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.