ClinVar Miner

List of variants reported as likely pathogenic for Noonan syndrome 1; Metachondromatosis; LEOPARD syndrome 1 by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.853T>G (p.Phe285Val) rs397507531

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