Table 2

Ten prevalent variants in 279 patients with multiple likely pathogenic variants

Nucleotide change, amino acid change/effectAllele frequency in total ProgStar cohort with multiple likely pathogenic variants
c.5882G>A, p.Gly1961Glu15.05%
c.2588G>C, p.Gly863Ala7.17%
c.5461–10T>C, splice site alteration4.84%
c.4139C>T, p.Pro1380Leu3.94%
c.1622T>C, p.Leu541Pro2.69%
c.5714+5G>A, splice site alteration2.33%
c.3322C>T, p.Arg1108Cys2.33%
c.6079C>T, p.Leu2027Phe2.33%
c.6320G>A, p.Arg2107His1.61%
c.6089G>A, p.Arg2030Gln1.61%
  • ProgStar cohort=Natural History of the Progression of Atrophy Secondary to Stargardt Disease study cohort.

  • The prevalent likely pathogenic variants were defined as variants with allele frequency of at least 1.5% in 279 patients with multiple likely pathogenic variants.