ClinVar Miner

Variants from Nemer Genomics and Translation Biomedicine Lab, American University of Beirut

Location: Lebanon  Primary collection method: clinical testing
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
6 2 4 1 0 13

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
NKX2-5 3 0 0 1 4
CDH3 1 0 0 0 1
FOXC1 0 0 1 0 1
GJB2 1 0 0 0 1
HEPHL1 0 0 1 0 1
IL17RA 0 1 0 0 1
ITK 0 0 1 0 1
MITF 0 0 1 0 1
SMARCD1 0 1 0 0 1
TRAF3IP2 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign total
Atrial septal defect 7 3 0 0 0 3
Alopecia, androgenetic, 1 0 1 1 0 2
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome 1 0 0 0 1
Discoid lupus erythematosus 1 0 0 0 1
Hypotrichosis simplex 1 0 0 0 1
Lichen planopilaris 0 0 1 0 1
Nonsyndromic Deafness 0 0 1 0 1
Psoriasis 0 1 0 0 1
Single ventricle; small Atrial septal defect 0 0 0 1 1
Vitiligo-associated multiple autoimmune disease susceptibility 1 0 0 1 0 1

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