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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.