ClinVar Miner

List of variants in gene ABCA4 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
Download table as spreadsheet
HGVS dbSNP
NC_000001.11:g.94063090C>A
NM_000350.3(ABCA4):c.1002G>C (p.Val334=) rs751548532
NM_000350.3(ABCA4):c.1003C>T (p.Leu335Phe) rs1057520668
NM_000350.3(ABCA4):c.1155C>T (p.Ile385=) rs376624031
NM_000350.3(ABCA4):c.1357-110C>A
NM_000350.3(ABCA4):c.1610G>A (p.Arg537His) rs61752395
NM_000350.3(ABCA4):c.1653G>A (p.Val551=) rs61753963
NM_000350.3(ABCA4):c.1938-227G>A
NM_000350.3(ABCA4):c.1962T>C (p.Cys654=)
NM_000350.3(ABCA4):c.2646C>T (p.Gly882=) rs180921875
NM_000350.3(ABCA4):c.2653+239T>C
NM_000350.3(ABCA4):c.2742C>T (p.His914=) rs1362746093
NM_000350.3(ABCA4):c.3191-20C>T rs61754036
NM_000350.3(ABCA4):c.3264C>T (p.Pro1088=) rs140876019
NM_000350.3(ABCA4):c.3297A>C (p.Ser1099=) rs148917659
NM_000350.3(ABCA4):c.339C>T (p.Leu113=) rs1553196340
NM_000350.3(ABCA4):c.3539C>T (p.Ser1180Leu)
NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met) rs61752424
NM_000350.3(ABCA4):c.4038G>A (p.Thr1346=)
NM_000350.3(ABCA4):c.4129-16G>A rs762600499
NM_000350.3(ABCA4):c.4253+13G>A rs145766145
NM_000350.3(ABCA4):c.4256T>C (p.Met1419Thr) rs142673376
NM_000350.3(ABCA4):c.4296C>T (p.Asp1432=) rs368147821
NM_000350.3(ABCA4):c.4352+14C>T rs75359153
NM_000350.3(ABCA4):c.4539+2064C>T rs1553189179
NM_000350.3(ABCA4):c.4540-2036C>A rs886044743
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) rs62646862
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg) rs61753017
NM_000350.3(ABCA4):c.5196+1136C>A rs114147805
NM_000350.3(ABCA4):c.5196+1159G>A rs80110715
NM_000350.3(ABCA4):c.5898+20C>T rs761429989
NM_000350.3(ABCA4):c.5955C>T (p.Leu1985=) rs201545948
NM_000350.3(ABCA4):c.618C>T (p.Ser206=) rs61748536
NM_000350.3(ABCA4):c.6498C>T (p.Ile2166=) rs61751379
NM_000350.3(ABCA4):c.6522G>A (p.Pro2174=) rs143909323
NM_000350.3(ABCA4):c.769-157T>G
NM_000350.3(ABCA4):c.769-210G>A

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.