List of variants reported as pathogenic for age-related macular degeneration by Sharon lab, Hadassah-Hebrew University Medical Center

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: 29

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	rs1800553	0.00269
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met)	rs58331765	0.00136
NM_000350.3(ABCA4):c.5714+5G>A	rs61751407	0.00036
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)	rs61750130	0.00023
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys)	rs61750120	0.00019
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)	rs61751392	0.00017
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met)	rs61750152	0.00016
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu)	rs61750145	0.00009
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)	rs61750200	0.00008
NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser)	rs201471607	0.00007
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.3050+5G>A	rs61751262	0.00002
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)	rs61751403	0.00001
NM_000350.3(ABCA4):c.6563T>C (p.Phe2188Ser)	rs61750658	0.00001
NM_000350.2(ABCA4):c.[1A>G;6089G>A]
NM_000350.3(ABCA4):c.1172del (p.Lys391fs)	rs1570407032
NM_000350.3(ABCA4):c.3449_3451del (p.Cys1150del)	rs1570370826
NM_000350.3(ABCA4):c.4254-1G>A	rs886044740
NM_000350.3(ABCA4):c.4979C>T (p.Pro1660Leu)	rs886044746
NM_000350.3(ABCA4):c.5059del (p.Ile1687fs)	rs1571256775
NM_000350.3(ABCA4):c.5169C>G (p.Tyr1723Ter)	rs1437993640
NM_000350.3(ABCA4):c.5189G>A (p.Trp1730Ter)	rs886044747
NM_000350.3(ABCA4):c.5351T>G (p.Leu1784Arg)	rs746252741
NM_000350.3(ABCA4):c.5380G>C (p.Ala1794Pro)	rs1571252997
NM_000350.3(ABCA4):c.5460+1G>A	rs61753030
NM_000350.3(ABCA4):c.6077del (p.Leu2026fs)	rs1571245809
NM_000350.3(ABCA4):c.834del (p.Asp279fs)	rs779743222
NM_001844.5(COL2A1):c.1527+135G>A	rs1592218346

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.