The CFTR-France database has retrieved 32 VARIANTS INVOLVED IN COMPLEX ALLELES, which are displayed below:



Variants listing:
#Exon/intron Name Legacy name Classe
Intron 2 c.[165-291_1585-8528delins39;2619+2288_2989-839delins16] CFTRdele3-10,14b-16 disease-causing
Exon 3 c.220C>T R74W disease-causing
Exon 3 c.221G>A R74Q non disease-causing
Exon 4 c.443T>C I148T non disease-causing
Exon 6 c.627A>G A209A (759A/G) VUS
Exon 6 c.617T>G L206W disease-causing
Exon 6 c.601G>A V201M disease-causing
Exon 8 c.890G>A R297Q non disease-causing
Intron 9 c.1210-12T[5] poly-T tract variations disease-causing
Intron 9 c.1210-34_1210-6TG[9]T[9] TG9T9 non disease-causing
Intron 9 c.1210-34_1210-6TG[11]T[5] TG11T5 VUS
Intron 9 c.1210-34_1210-6TG[13]T[5] TG13T5 disease-causing
Intron 9 c.1210-34_1210-6TG[12]T[5] TG12T5 disease-causing
Exon 10 c.1327G>T D443Y disease-causing
Exon 11 c.1399C>T 1531C/T (L467F) VUS
Exon 11 c.1523T>G F508C disease-causing
Exon 11 c.1521_1523del ΔF508 disease-causing
Intron 13 c.1766+5G>A 1898+5G>A disease-causing
Exon 13 c.1684G>A V562I VUS
Exon 13 c.1727G>C G576A non disease-causing
Exon 14 c.2002C>T R668C disease-causing
Exon 14 c.2260G>A V754M non disease-causing
Exon 14 c.2173G>A E725K likely benign
Exon 14 c.2421A>G I807M ; 2553A/G disease-causing
Exon 18 c.2930C>T S977F disease-causing
Intron 18 c.2989-313A>T disease-causing
Exon 19 c.3067_3072del 3199del6 ; 3195del6 disease-causing
Exon 19 c.3080T>C I1027T likely benign
Exon 22 c.3705T>G S1235R non disease-causing
Exon 23 c.3808G>A D1270N disease-causing
Exon 23 c.3752G>A S1251N disease-causing
Exon 25 c.4056G>T Q1352H(G>T) disease-causing





Go to CFTRare