ClinVar Miner

List of variants reported as uncertain significance for Noonan syndrome by St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital

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Total variants: 16
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NM_001354689.3(RAF1):c.176G>A (p.Arg59His) rs1559447623
NM_001354689.3(RAF1):c.1781A>G (p.Tyr594Cys) rs370242565
NM_001354689.3(RAF1):c.226A>G (p.Met76Val) rs730880999
NM_001354689.3(RAF1):c.31A>T (p.Ile11Phe) rs779001930
NM_001374258.1(BRAF):c.995C>T (p.Thr332Ile) rs1008080053
NM_002834.5(PTPN11):c.15-4del rs1223869705
NM_002834.5(PTPN11):c.940T>C (p.Phe314Leu) rs968167995
NM_005633.4(SOS1):c.3286T>A (p.Ser1096Thr) rs376722127
NM_005633.4(SOS1):c.3709C>G (p.Pro1237Ala) rs371408734
NM_005633.4(SOS1):c.38A>G (p.Glu13Gly)
NM_005633.4(SOS1):c.571G>A (p.Glu191Lys) rs886041241
NM_007373.4(SHOC2):c.1741A>G (p.Met581Val) rs1470655019
NM_030662.4(MAP2K2):c.46C>A (p.Pro16Thr) rs904859028
NM_030662.4(MAP2K2):c.523A>G (p.Ile175Val) rs373325880
NM_030662.4(MAP2K2):c.938G>A (p.Arg313Gln) rs151133017
NM_033360.4(KRAS):c.*101_*106del rs1339924833

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