ClinVar Miner

Variants from Clinics for Rare Diseases Referral (Hong Kong),The University of Hong Kong

Location: Hong Kong — 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
0 2 0 0 0 2

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination likely pathogenic total
EBF3 1 1
TOP2B 1 1

Condition and significance breakdown #

Total conditions: 2
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Condition likely pathogenic total
Autism spectrum disorder 1 1
Oromandibular-limb hypogenesis spectrum 1 1

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