ClinVar Miner

List of variants studied for age-related macular degeneration by Molecular Genetics Laboratory, Institute for Ophthalmic Research

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.5774G>T (p.Arg1925Ile) rs1208195953 0.00001
NM_000322.5(PRPH2):c.653C>T (p.Ser218Leu) rs986748364
NM_000350.2(ABCA4):c.571_580dup rs1662216783
NM_000350.2(ABCA4):c.[5512C>G;5882G>A]
NM_000350.3(ABCA4):c.1454del (p.Gly485fs) rs1661577361
NM_000350.3(ABCA4):c.2731_2732del (p.Glu911fs) rs1660761326
NM_000350.3(ABCA4):c.4598T>C (p.Phe1533Ser) rs1557770154
NM_000350.3(ABCA4):c.4848+1G>T rs1659900228
NM_000350.3(ABCA4):c.517dup (p.Leu173fs) rs1662327418
NM_000350.3(ABCA4):c.5907CCT[3] (p.Leu1971dup) rs1659430629
NM_000350.3(ABCA4):c.6816+2T>A rs112005636
NM_003322.6(TULP1):c.1201C>T (p.Gln401Ter) rs1761021773

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.