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Table 3 Variant classifications

From: Cystic fibrosis testing in a referral laboratory: results and lessons from a six-year period

Variant class Number of variants
Missense 105
Intronic 32
Synonymous 33
Splice Site 18
Nonsense 11
Promoter 3
Total 184
  1. Number of variants assigned to each of six possible classifications. Some variants were assigned to multiple classes (i.e. intronic and splice site). Promoter variants are variants upstream of the translational start site, and a splice site variant is a variant located in one of the four positions flanking exon/intron (and intron/exon) boundaries.