Table 1 Most common CFTR variants (cystic fibrosis) by race/ethnicity detected by expanded carrier screening.
Racial or ethnic group | Sum of variantsa | Most common variantsb | Number reported | % of total | Detectable by CF23 |
|---|---|---|---|---|---|
Caucasian | 7311 | c.1521_1523delCTT (p.F508del) | 3865 | 52.87 | Yes |
c.350G>A (p.R117H) | 557 | 7.62 | Yes | ||
c.3154T>G (p.F1052V) | 226 | 3.09 | No | ||
c.3454G>C (p.D1152H) | 151 | 2.07 | No | ||
c.1624G>T (p.G542*) | 139 | 1.90 | Yes | ||
Hispanic | 1880 | c.1521_1523delCTT (p.F508del) | 561 | 29.84 | Yes |
c.3454G>C (p.D1152H) | 119 | 6.33 | No | ||
c.3154T>G (p.F1052V) | 100 | 5.32 | No | ||
c.1624G>T (p.G542*) | 68 | 3.62 | Yes | ||
c.350G>A (p.R117H) | 64 | 3.40 | Yes | ||
African American | 1271 | c.1521_1523delCTT (p.F508del) | 296 | 23.29 | Yes |
c.2988+1G>A | 121 | 9.52 | Yes | ||
c.1865G>A (p.G622D) | 86 | 6.77 | No | ||
c.1853T>C (p.I618T) | 42 | 3.30 | No | ||
c.3297C>A (p.F1099L) | 32 | 2.52 | No | ||
East Asian | 134 | c.1865G>A (p.G622D) | 20 | 14.93 | No |
c.3209G>A (p.R1070Q) | 18 | 13.43 | No | ||
c.3205G>A (p.G1069R) | 15 | 11.19 | No | ||
c.1521_1523delCTT (p.F508del) | 10 | 7.46 | Yes | ||
c.2909G>A (p.G970D) | 7 | 5.22 | No | ||
South East Asian | 187 | c.1865G>A (p.G622D) | 46 | 24.60 | No |
c.3209G>A (p.R1070Q) | 33 | 17.65 | No | ||
c.1521_1523delCTT (p.F508del) | 24 | 12.83 | Yes | ||
c.1558G>A (p.V520I) | 15 | 8.02 | No | ||
c.1367T>C (p.V456A) | 14 | 7.49 | No | ||
Ashkenazi Jewish | 255 | c.3846G>A (p.W1282*) | 74 | 29.02 | Yes |
c.1521_1523delCTT (p.F508del) | 56 | 22.96 | Yes | ||
c.3454G>C (p.D1152H) | 34 | 13.33 | No | ||
c.3154T>G (p.F1052V) | 18 | 7.06 | No | ||
c.1624G>T (p.G542*) | 8 | 3.14 | Yes |
