Basic statistics:

The CFTR-France currently has 5962 individuals recorded, including:

Patients stats

Patients statistics and pathologies

Pathology	Nb	Details
Pending	59	-
Asymptomatic compound heterozygote	198	-
Fetal bowel anomalies	73	-
CFTR-RD	1947	22  Aquagenic palmoplantar keratoderma 231  Bronchiectasis 1076  CBAVD 47  CRS-NP 258  Other 313  Pancreatitis
Pending (NBS)	271	-
CF	3400	-
Pending non-CF	14	-

Variants classification stats

Variant class	Number
Total	1046
likely benign	28
disease-causing	526
likely pathogenic	57
VUS	350
non disease-causing	85

DNA Alterations

Protein Alterations

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