ClinVar Miner

Variants from Santos-Cortez Lab,University of Colorado School of Medicine

Location: United States — Primary collection method: research
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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
1 8 13 0 0 22

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
A2ML1 1 1 13 15
CHD7 0 1 0 1
COL4A3, LOC654841 0 1 0 1
EYA4 0 1 0 1
GSDME 0 1 0 1
MYH14 0 1 0 1
MYO15A 0 1 0 1
OTOA 0 1 0 1

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance total
Otitis media, susceptibility to 1 1 13 15
Alport syndrome 3, autosomal dominant 0 1 0 1
CHARGE association 0 1 0 1
Deafness, autosomal dominant 10 0 1 0 1
Deafness, autosomal dominant 4 0 1 0 1
Deafness, autosomal dominant 5 0 1 0 1
Deafness, autosomal recessive 22 0 1 0 1
Deafness, autosomal recessive 3 0 1 0 1

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