Basic statistics:

The CFTR-France currently has 5893 individuals recorded, including:

Patients stats

Patients statistics and pathologies

Pathology	Nb	Details
CFTR-RD	1933	21  Aquagenic palmoplantar keratoderma 230  Bronchiectasis 1072  CBAVD 46  CRS-NP 253  Other 311  Pancreatitis
Asymptomatic compound heterozygote	193	-
CF	3347	-
Pending	58	-
Pending (NBS)	273	-
Pending non-CF	15	-
Fetal bowel anomalies	74	-

Variants classification stats

Variant class	Number
Total	1011
VUS	377
likely pathogenic	47
disease-causing	493
non disease-causing	83
likely benign	11

DNA Alterations

Protein Alterations

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