ClinVar Miner

List of variants reported as likely pathogenic by The Molecular Genetic Diagnosis Center,Children’s Hospital of Fudan University

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Total variants: 2
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HGVS dbSNP
NM_000944.4(PPP3CA):c.1255_1256delAG (p.Ser419Cysfs) rs1553920383
NM_004380.2(CREBBP):c.1738G>A (p.Ala580Thr)

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