ClinVar Miner

Variants from Garcia Pulmonary Genetics Research Laboratory, Columbia University Irving Medical Center

Location: United States  Primary collection method: research
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 likely risk allele total
13 11 0 0 0 108 124

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic likely risk allele total
TERT 1 11 46 50
RTEL1, RTEL1-TNFRSF6B 6 0 12 18
PARN 5 0 10 15
KIF15 0 0 11 11
LOC110806306, TERC 0 0 8 8
LOC110806263, TERT 0 0 6 6
NAF1 1 0 4 5
SFTPC 0 0 5 5
DKC1 0 0 2 2
TERC 0 0 2 2
SFTPA2 0 0 1 1
TINF2 0 0 1 1

Condition and significance breakdown #

Total conditions: 2
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Condition pathogenic likely pathogenic likely risk allele total
Pulmonary fibrosis 13 0 108 121
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 0 11 0 11

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