ClinVar Miner

List of variants reported as pathogenic for Cardiofaciocutaneous syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7 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_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035

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