List of variants in gene ABCA4, LOC126805793 studied for Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.4715C>T (p.Thr1572Met)	rs185093512	0.00006
NM_000350.3(ABCA4):c.4773+3A>G	rs759672616	0.00004
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp)	rs61750155	0.00003
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)	rs61751404	0.00003
NM_000350.3(ABCA4):c.4765G>A (p.Val1589Met)	rs767980304	0.00001
NM_000350.3(ABCA4):c.4849-1G>A	rs61750156	0.00001
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)	rs61751403	0.00001
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg)	rs61753017	0.00001
NM_000350.3(ABCA4):c.4871G>A (p.Trp1624Ter)
NM_000350.3(ABCA4):c.4873C>T (p.His1625Tyr)	rs1085307968
NM_000350.3(ABCA4):c.5012_5016del (p.Ile1671fs)	rs1571257754

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.