ClinVar Miner

Variants studied for Aplastic anemia; Atrial septal defect; Pulmonary arterial hypertension; Hypotelorism; Hemangioma; Hepatomegaly; Abnormality of the pinna; Downslanted palpebral fissures; Wide anterior fontanel; Low-set, posteriorly rotated ears; Dry skin; Relative macrocephaly; Dilation of lateral ventricles; Intracerebral periventricular calcifications; Aplasia of the ovary; Erythroid hypoplasia; Vaginal hydrocele

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
DIPK1A, RPL5 1 1

Submitter and significance breakdown #

Total submitters: 1
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Submitter pathogenic total
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1

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