ClinVar Miner

List of variants reported as benign for cataract 19 multiple types by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003380.5(VIM):c.813C>T (p.Asp271=) rs4903 0.05252
NM_001161748.2(LIM2):c.231C>T (p.Ser77=) rs8111243 0.01252
NM_003380.5(VIM):c.879C>G (p.Ser293=) rs11254467 0.01153
NM_001161748.2(LIM2):c.175+11C>T rs73933350 0.00824
NM_003380.5(VIM):c.1009-10C>T rs79719081 0.00570
NM_003380.5(VIM):c.282C>T (p.Thr94=) rs144539901 0.00107
NM_003380.5(VIM):c.1008+18A>G rs368836644 0.00103
NM_001161748.2(LIM2):c.57G>A (p.Leu19=) rs142517355 0.00068
NM_003380.5(VIM):c.99G>T (p.Thr33=) rs531385322 0.00001
NM_001161748.2(LIM2):c.337G>A (p.Val113Met) rs73934370
NM_001161748.2(LIM2):c.460+19G>C
NM_003380.5(VIM):c.1360-7del
NM_003380.5(VIM):c.1360-7dup rs750651760
NM_003380.5(VIM):c.720+18C>T rs7096093
NM_003380.5(VIM):c.807G>T (p.Leu269=) rs745874397

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.