ClinVar Miner

Variants from Agency for Science, Technology and Research, Genome Institute of Singapore

Location: Singapore  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
1 0 0 0 0 1

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic total
MED13L 1 1

Condition and significance breakdown #

Total conditions: 1
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Condition pathogenic total
Hypertelorism; Isolated Pierre-Robin syndrome; Scoliosis; Hirsutism; Bulbous nose; Flat occiput; Wide nasal bridge; Strabismus; Intellectual disability, mild; Metatarsus adductus; Equinovarus deformity; Camptodactyly; Developmental delay; Smooth philtrum 1 1

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