ClinVar Miner

List of variants reported as uncertain significance for Autism; Cryptorchidism; Pulmonic stenosis; Sensorineural hearing loss disorder; Global developmental delay; Scoliosis; Hemivertebrae; Bilateral cleft lip and palate; Rib fusion; Abnormal sternum morphology; Bilateral cleft palate; Delayed speech and language development; Renal agenesis; Unilateral renal agenesis; Strabismus; Severely reduced visual acuity; Relative macrocephaly; Bilateral cleft lip; Cleft palate

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_005634.3(SOX3):c.735_737dup (p.Ala248dup)	rs398124211

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