Basic statistics:

The CFTR-France currently has 5735 individuals recorded, including:

Patients stats

Patients statistics and pathologies

Pathology	Nb	Details
Pending non-CF	15	-
Asymptomatic compound heterozygote	183	-
CFTR-RD	1838	16  Aquagenic palmoplantar keratoderma 209  Bronchiectasis 1028  CBAVD 41  CRS-NP 237  Other 307  Pancreatitis
Fetal bowel anomalies	74	-
CF	3297	-
Pending	58	-
Pending (NBS)	270	-

Variants classification stats

Variant class	Number
Total	989
non disease-causing	76
VUS	361
likely benign	7
disease-causing	500
likely pathogenic	45

DNA Alterations

Protein Alterations

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