ClinVar Miner

List of variants reported as pathogenic for Epicanthus; Hypertelorism; Coarctation of aorta; Global developmental delay; Inguinal hernia; Bilateral cryptorchidism; Downslanted palpebral fissures; Short neck; Thin vermilion border; Wide intermamillary distance; Wide nose; Penile hypospadias; Low-set, posteriorly rotated ears; Thickened helices; Strabismus; Abnormal number of hair whorls; Bicuspid aortic valve; Smooth philtrum by Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
46;XY;t(1;5)(p35.3;q31.3)dn

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