ClinVar Miner

List of variants reported as likely pathogenic for Cone/cone-rod dystrophy

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
NM_000180.3(GUCY2D):c.238_252delGCCGCCGCCCGCCTG (p.Ala80_Leu84del) rs952193754
NM_000180.3(GUCY2D):c.307G>A (p.Glu103Lys) rs61749668
NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg) rs113106943
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_001079878.2(CNGA3):c.1351G>A (p.Ala451Thr) rs117522010
NM_001079878.2(CNGA3):c.913G>C (p.Ala305Pro) rs146195955
NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro) rs140451304
NM_022787.4(NMNAT1):c.271G>A (p.Glu91Lys) rs1271498710
NM_145200.4(CABP4):c.673C>T (p.Arg225Ter) rs531851447
NM_152384.3(BBS5):c.412C>T (p.Arg138Cys) rs1238632042
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser) rs137853921
Single allele

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.