ClinVar Miner

List of intergenic variants studied for Hypertelorism; Global developmental delay; Motor delay; Short chin; Low-set ears; Delayed speech and language development; Depressed nasal bridge; Frontal bossing; Triangular face; Impaired social interactions; Poor eye contact; Athetosis; Uncontrolled eye movements; Prominent forehead; Muscular hypotonia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP
46;XY;ins(7;10)(q32;q22.1q24.3);t(9;16)(q22;q12.1)dn

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