ClinVar Miner

List of variants reported as uncertain significance for Noonan syndrome by Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital

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Total variants: 4
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HGVS dbSNP
NM_001374258.1(BRAF):c.1325C>G (p.Pro442Arg) rs199927105
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg) rs397516805
NM_005633.4(SOS1):c.3392G>A (p.Arg1131Lys) rs768113420
NM_006912.6(RIT1):c.233G>A (p.Gly78Glu) rs1557960268

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