ClinVar Miner

Variants studied for Epicanthus; Atrial septal defect; Inguinal hernia; Hydronephrosis; Hirsutism; Large earlobe; Abnormal facial shape; Short nose; Single transverse palmar crease; Synophrys; Thin vermilion border; Micropenis; Horseshoe kidney; Entropion; Reduced tendon reflexes; Umbilical hernia; Abnormality of the nail; Mitral regurgitation; Aortic regurgitation; Capillary hemangiomas; 2-3 toe cutaneous syndactyly; Muscular hypotonia; Patent ductus arteriosus

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
​intergenic 1 1

Submitter and significance breakdown #

Total submitters: 1
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Submitter pathogenic total
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 1 1

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