List of variants in gene ABCA4 reported as benign by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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

Total variants: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=)	rs1762114	0.78856
NM_000350.3(ABCA4):c.1240-14C>T	rs4147830	0.47169
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg)	rs3112831	0.25928
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=)	rs1801574	0.23813
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=)	rs4147857	0.20473
NM_000350.3(ABCA4):c.5836-11G>A	rs1800739	0.20309
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=)	rs2275029	0.19626
NM_000350.3(ABCA4):c.635G>A (p.Arg212His)	rs6657239	0.04939
NM_000350.3(ABCA4):c.4539+2029C>G	rs17110883	0.03299
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln)	rs1801581	0.02951
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg)	rs61750126	0.02895
NM_000350.3(ABCA4):c.*10C>A	rs145634012	0.00671
NM_000350.3(ABCA4):c.302+20C>T	rs61753050	0.00508
NM_000350.3(ABCA4):c.237T>C (p.Asn79=)	rs149381884	0.00306
NM_000350.3(ABCA4):c.4203C>A (p.Pro1401=)	rs1801666
NM_000350.3(ABCA4):c.6006-16G>A	rs4147863

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.