List of variants reported as benign for Cone-Rod Dystrophy, Recessive

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=)	rs1762114	0.78856
NM_033100.4(CDHR1):c.*4A>G	rs3814212	0.67129
NM_033100.4(CDHR1):c.*869T>G	rs6585845	0.59527
NM_033100.4(CDHR1):c.2439T>C (p.Thr813=)	rs3814213	0.58250
NM_033100.4(CDHR1):c.477A>G (p.Ala159=)	rs4933975	0.52743
NM_000350.3(ABCA4):c.1240-14C>T	rs4147830	0.47169
NM_033100.4(CDHR1):c.1662A>G (p.Glu554=)	rs10749482	0.42520
NM_033100.4(CDHR1):c.*2643A>T	rs1059342	0.29454
NM_000350.3(ABCA4):c.6285T>C (p.Asp2095=)	rs1801555	0.27862
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile)	rs6666652	0.17582
NM_000350.3(ABCA4):c.6730-3T>C	rs1800717	0.15096
NM_000350.3(ABCA4):c.1356+10dup	rs281865386
NM_000350.3(ABCA4):c.4774-17_4774-16del	rs55860151
NM_003816.3(ADAM9):c.1130+15_1130+18dup	rs10651669
NM_033100.4(CDHR1):c.*2588A>C	rs1059341

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.