ClinVar Miner

Variants from Congenital Heart Disease Genetic Program Lab,American University of Beirut

Location: Lebanon — 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 total
4 0 1 1 0 6

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic uncertain significance likely benign total
NKX2-5 3 0 1 4
MITF 0 1 0 1
TRAF3IP2 1 0 0 1

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic uncertain significance likely benign total
Atrial septal defect 7 with or without atrioventricular conduction defects 3 0 0 3
Discoid lupus rash 1 0 0 1
Nonsyndromic Deafness 0 1 0 1
Single ventricle; small Atrial septal defect 0 0 1 1

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