ClinVar Miner

Variants studied for Cryptorchidism; Congenital cataract; Hypertrichosis; Abnormality of the corpus callosum; Bilateral microphthalmos; Low-set ears; Spasticity; Absent speech; Rigidity; Thoracolumbar scoliosis; Humeral cortical thickening; Cortical thickening of humeral diaphysis; Cerebral hypomyelination; Congenital ptosis; Infantile axial hypotonia; Intellectual disability, severe; Cleft palate; Movement disorder

Coded as:
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
RAB3GAP1 1 1

Submitter and significance breakdown #

Total submitters: 1
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Submitter pathogenic total
Human Genetics Department,Tarbiat Modares University 1 1

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