ClinVar Miner

Variants from CFTR2

Location: United States  Primary collection method: research
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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
395 0 11 0 0 406

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic uncertain significance total
CFTR 322 9 331
CFTR, LOC111674472 37 1 38
CFTR, LOC111674475 20 0 20
CFTR, LOC113664106 10 1 11
CFTR, LOC111674477 3 0 3
CFTR, LOC111674463 1 0 1
CFTR, LOC113633877 1 0 1
CFTR, LOC113664106, LOC113664107 1 0 1

Condition and significance breakdown #

Total conditions: 1
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Condition pathogenic uncertain significance total
Cystic fibrosis 395 11 406

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