ClinVar Miner

List of variants reported as uncertain significance for Septo-optic dysplasia sequence by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_003865.3(HESX1):c.385G>A (p.Val129Ile)	rs143057250	0.00064
NM_003865.3(HESX1):c.200G>A (p.Ser67Asn)	rs141863326

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