ClinVar Miner

List of intergenic variants studied for Hypertelorism; Keloid formation; Inversion of nipple; Global developmental delay; Seizures; Feeding difficulties; Vomiting; EEG abnormality; Anteverted nares; Cafe-au-lait spot; Conductive hearing impairment; Decreased testicular size; Delayed speech and language development; Wide nasal bridge; Thin upper lip vermilion; Recurrent otitis media; Downturned corners of mouth; Clinodactyly of the 3rd toe; Finger clinodactyly; Small scrotum; 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;inv(6)(q22.2q27)dn

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