ClinVar Miner

Variants from CFTR-France

Location: France  Primary collection method: curation
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
463 0 0 0 53 516

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic benign total
CFTR 370 43 413
CFTR, LOC111674472 50 5 55
CFTR, LOC111674475 18 0 18
CFTR, LOC113664106 12 0 12
CFTR, LOC111674477 7 2 9
CFTR, LOC111674463 0 3 3
CFTR, LOC111674468, LOC111674477 1 0 1
CFTR, LOC113219471 1 0 1
CFTR, LOC113633876 1 0 1
CFTR, LOC113633877 1 0 1
CFTR, LOC113664106, LOC113664107 1 0 1
CFTR, LOC126860160 1 0 1

Condition and significance breakdown #

Total conditions: 3
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Condition pathogenic benign total
Cystic fibrosis 338 53 391
Cystic fibrosis; CFTR-related disorders 83 0 83
CFTR-related disorders 42 0 42

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