ClinVar Miner

List of variants reported as uncertain significance for Cone-rod dystrophy 11

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001319074.4(RAX2):c.432G>A (p.Ala144=) rs149918940 0.00108
NM_001319074.4(RAX2):c.*368C>T rs756898228 0.00076
NM_001319074.4(RAX2):c.*776C>T rs887917665 0.00041
NM_001319074.4(RAX2):c.*201C>T rs565417258 0.00014
NM_001319074.4(RAX2):c.*501C>T rs891425007 0.00012
NM_001319074.4(RAX2):c.275C>T (p.Ser92Leu) rs754730849 0.00009
NM_001319074.4(RAX2):c.-286G>T rs563046576 0.00007
NM_001319074.4(RAX2):c.413C>T (p.Pro138Leu) rs978473853 0.00007
NM_001319074.4(RAX2):c.83G>A (p.Arg28Gln) rs199546013 0.00006
NM_001319074.4(RAX2):c.*624G>A rs886054368 0.00004
NM_001319074.4(RAX2):c.*751G>A rs901586216 0.00004
NM_001319074.4(RAX2):c.*784C>T rs929531306 0.00004
NM_001319074.4(RAX2):c.535A>G (p.Arg179Gly) rs1025462223 0.00004
NM_001319074.4(RAX2):c.92G>A (p.Arg31His) rs373009969 0.00004
NM_001319074.4(RAX2):c.*1523T>C rs775609621 0.00003
NM_001319074.4(RAX2):c.*248C>T rs1418917467 0.00003
NM_001319074.4(RAX2):c.-269+8C>T rs886054370 0.00003
NM_001319074.4(RAX2):c.*195G>A rs1449281671 0.00002
NM_001319074.4(RAX2):c.*918G>A rs748630795 0.00002
NM_001319074.4(RAX2):c.*1490A>G rs1432848167 0.00001
NM_001319074.4(RAX2):c.*552C>T rs760554835 0.00001
NM_001319074.4(RAX2):c.*667G>A rs1477435359 0.00001
NM_001319074.4(RAX2):c.*687A>G rs1208248243 0.00001
NM_001319074.4(RAX2):c.*972T>A rs886054366 0.00001
NM_001319074.4(RAX2):c.134C>T (p.Ala45Val) rs775581464 0.00001
NM_001319074.4(RAX2):c.320C>T (p.Pro107Leu) rs774846243 0.00001
NM_001319074.4(RAX2):c.446A>G (p.His149Arg) rs1230148971 0.00001
NM_001319074.4(RAX2):c.*1483C>T rs886054363
NM_001319074.4(RAX2):c.*194C>G rs11883056
NM_001319074.4(RAX2):c.*263C>T rs1568400313
NM_001319074.4(RAX2):c.*7C>T rs781395665
NM_001319074.4(RAX2):c.*88C>T rs886054369
NM_001319074.4(RAX2):c.*897C>T rs2037229349
NM_001319074.4(RAX2):c.*949C>T rs886054367
NM_001319074.4(RAX2):c.-275G>A rs1184528094
NM_001319074.4(RAX2):c.-319C>A rs886054371
NM_001319074.4(RAX2):c.217-11G>C rs762459292
NM_001319074.4(RAX2):c.217-8C>A rs79588413

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.