ClinVar Miner

Variants from Molecular Biology of Hearing and Deafness Laboratory, Xinhua Hospital

Location: China — 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 not provided total
1 0 0 0 0 1 2

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic not provided total
KARS1 1 0 1
TBC1D24 0 1 1

Condition and significance breakdown #

Total conditions: 2
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Condition pathogenic not provided total
Deafness, autosomal recessive 86 0 1 1
Leukoencephalopathy; Deafness 1 0 1

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