ClinVar Miner

List of variants studied for Noonan syndrome and Noonan-related syndrome by ClinGen RASopathy Variant Curation Expert Panel

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_002880.4(RAF1):c.94A>G (p.Ile32Val) rs372738063 0.00013
NM_005633.4(SOS1):c.3600C>G (p.Asp1200Glu) rs141594736 0.00013
NM_005633.4(SOS1):c.1018C>T (p.Pro340Ser) rs190222208 0.00006
NM_030662.4(MAP2K2):c.692G>A (p.Arg231His) rs730880511 0.00002
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val) rs397507504 0.00001
NM_005633.4(SOS1):c.1654A>T (p.Arg552Trp) rs137852814 0.00001
NM_002834.5(PTPN11):c.167T>C (p.Ile56Thr) rs1052382672
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.735A>T (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.739T>C (p.Phe247Leu) rs397516903
NM_004333.6(BRAF):c.739T>G (p.Phe247Val) rs397516903
NM_004333.6(BRAF):c.740T>C (p.Phe247Ser) rs397507467
NM_004333.6(BRAF):c.741T>G (p.Phe247Leu) rs397509343
NM_005633.4(SOS1):c.1655G>T (p.Arg552Met) rs397517154
NM_005633.4(SOS1):c.1656G>C (p.Arg552Ser) rs267607079
NM_005633.4(SOS1):c.1656G>T (p.Arg552Ser) rs267607079
NM_005633.4(SOS1):c.1867T>A (p.Phe623Ile) rs727505093
NM_005633.4(SOS1):c.1867_1869delinsGAA (p.Phe623Glu) rs1572823606
NM_005633.4(SOS1):c.512T>C (p.Val171Ala) rs397517174
NM_030662.4(MAP2K2):c.692G>T (p.Arg231Leu) rs730880511

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