ClinVar Miner

Variants from American College of Medical Genetics and Genomics (ACMG)

Location: United States — Primary collection method: curation
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
23 0 0 0 0 23

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic total
CFTR 17 17
CFTR, LOC111674475 5 5
CFTR, LOC113633877 1 1

Condition and significance breakdown #

Total conditions: 1
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Condition pathogenic total
Cystic fibrosis 23 23

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