ClinVar Miner

List of variants studied for cataract 30 by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003380.5(VIM):c.813C>T (p.Asp271=) rs4903 0.05252
NM_003380.5(VIM):c.879C>G (p.Ser293=) rs11254467 0.01153
NM_003380.5(VIM):c.1009-10C>T rs79719081 0.00570
NM_003380.5(VIM):c.542A>C (p.Asp181Ala) rs149942621 0.00115
NM_003380.5(VIM):c.749A>G (p.Gln250Arg) rs145152785 0.00111
NM_003380.5(VIM):c.282C>T (p.Thr94=) rs144539901 0.00107
NM_003380.5(VIM):c.1008+18A>G rs368836644 0.00103
NM_003380.5(VIM):c.987A>G (p.Glu329=) rs147429387 0.00026
NM_003380.5(VIM):c.911G>A (p.Arg304Gln) rs552165238 0.00021
NM_003380.5(VIM):c.384T>C (p.Asn128=) rs147857896 0.00016
NM_003380.5(VIM):c.1360-17T>G rs764183925 0.00010
NM_003380.5(VIM):c.758A>G (p.His253Arg) rs773762488 0.00004
NM_003380.5(VIM):c.1009-8C>A rs372984113 0.00003
NM_003380.5(VIM):c.134G>A (p.Arg45His) rs778098458 0.00001
NM_003380.5(VIM):c.167C>A (p.Ser56Tyr) rs773938980 0.00001
NM_003380.5(VIM):c.99G>T (p.Thr33=) rs531385322 0.00001
NM_003380.5(VIM):c.1024C>G (p.Arg342Gly)
NM_003380.5(VIM):c.1122G>A (p.Glu374=)
NM_003380.5(VIM):c.1360-18G>T
NM_003380.5(VIM):c.1360-7del
NM_003380.5(VIM):c.1360-7dup rs750651760
NM_003380.5(VIM):c.1368C>T (p.Asn456=)
NM_003380.5(VIM):c.1372A>G (p.Thr458Ala)
NM_003380.5(VIM):c.1374_1375dup (p.Ser459fs) rs1846907790
NM_003380.5(VIM):c.423A>G (p.Gln141=) rs2131679660
NM_003380.5(VIM):c.451GAG[2] (p.Glu153del)
NM_003380.5(VIM):c.468G>C (p.Glu156Asp) rs1846752790
NM_003380.5(VIM):c.563+15A>C
NM_003380.5(VIM):c.598G>C (p.Glu200Gln) rs1037734535
NM_003380.5(VIM):c.624+17C>G
NM_003380.5(VIM):c.624+7A>C rs376197279
NM_003380.5(VIM):c.624+7A>G
NM_003380.5(VIM):c.626A>G (p.Asp209Gly)
NM_003380.5(VIM):c.720+18C>T rs7096093
NM_003380.5(VIM):c.807G>T (p.Leu269=) rs745874397
NM_003380.5(VIM):c.814G>A (p.Val272Ile)
NM_003380.5(VIM):c.82C>G (p.Arg28Gly)
NM_003380.5(VIM):c.882+20G>A
NM_003380.5(VIM):c.990G>C (p.Val330=)

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.