ClinVar Miner

Variants from Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics

Location: Russian Federation  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
43 9 2 0 0 54

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
PAX6 39 7 2 48
LOC121740638, TFAP2A 3 0 0 3
MYO15A 0 2 0 2
ELP4, PAX6 1 0 0 1

Condition and significance breakdown #

Total conditions: 3
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Condition pathogenic likely pathogenic uncertain significance total
Aniridia 1 40 7 2 49
Branchiooculofacial syndrome 3 0 0 3
Autosomal recessive nonsyndromic hearing loss 3 0 2 0 2

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