ClinVar Miner

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

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_005633.4(SOS1):c.3286T>A (p.Ser1096Thr) rs376722127 0.00017
NM_005633.4(SOS1):c.3709C>G (p.Pro1237Ala) rs371408734 0.00016
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys) rs370242565 0.00012
NM_005633.4(SOS1):c.3387C>T (p.Gly1129=) rs772823827 0.00005
NM_004333.6(BRAF):c.995C>T (p.Thr332Ile) rs1008080053 0.00004
NM_030662.4(MAP2K2):c.938G>A (p.Arg313Gln) rs151133017 0.00004
NM_006270.5(RRAS):c.64G>T (p.Gly22Trp) rs754976061 0.00003
NM_002834.5(PTPN11):c.860A>C (p.His287Pro) rs2038527071 0.00001
NM_002834.5(PTPN11):c.940T>C (p.Phe314Leu) rs968167995 0.00001
NM_002880.4(RAF1):c.31A>T (p.Ile11Phe) rs779001930 0.00001
NM_005633.4(SOS1):c.571G>A (p.Glu191Lys) rs886041241 0.00001
NM_006270.5(RRAS):c.167C>G (p.Ser56Cys) rs537601977 0.00001
NM_002834.5(PTPN11):c.15-4del rs1223869705
NM_002880.4(RAF1):c.176G>A (p.Arg59His) rs1559447623
NM_002880.4(RAF1):c.226A>G (p.Met76Val) rs730880999
NM_005633.4(SOS1):c.38A>G (p.Glu13Gly) rs2148243276
NM_005633.4(SOS1):c.4C>A (p.Gln2Lys) rs587781174
NM_006270.5(RRAS):c.563G>A (p.Arg188Gln) rs374621936
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_033360.4(KRAS):c.*101_*106del rs1339924833

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