ClinVar Miner

List of intergenic variants reported as likely pathogenic for Global developmental delay; Expressive language delay; Short stature; Enuresis; Feeding difficulties; Constipation; Receptive language delay; Tapered finger; Atrial septal defect, ostium secundum type; Clinodactyly of the 5th finger; Specific learning disability; Facial asymmetry; Increased red blood cell mass; Poor suck; Delayed skeletal maturation; Proportionate shortening of all digits; Abnormal facial skeleton morphology; Tics; Attention deficit hyperactivity disorder

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
46;X;t(Y;16)(q11.23;p11.2);t(6;21)(p21.3;p13)dn

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