List of variants reported as pathogenic for Noonan syndrome by Juno Genomics, Hangzhou Juno Genomics, Inc

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Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)	rs376607329	0.00003
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp)	rs397507541	0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)	rs121918459	0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)	rs28933386	0.00001
NM_002524.5(NRAS):c.149C>T (p.Thr50Ile)	rs267606921
NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser)	rs397507539
NM_002834.5(PTPN11):c.1505C>T (p.Ser502Leu)	rs397507544
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)	rs397507547
NM_002834.5(PTPN11):c.174C>A (p.Asn58Lys)	rs397507506
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala)	rs397507509
NM_002834.5(PTPN11):c.205G>C (p.Glu69Gln)	rs397507511
NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg)	rs397516801
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile)	rs121918462
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)	rs121918466
NM_002834.5(PTPN11):c.317A>C (p.Asp106Ala)	rs397507517
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)	rs397507520
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser)	rs121918463
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)	rs80338796
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu)	rs180177037
NM_004333.6(BRAF):c.1801A>C (p.Lys601Gln)	rs121913364
NM_004985.5(KRAS):c.35G>C (p.Gly12Ala)	rs121913529
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly)	rs137852814
NM_006767.4(LZTR1):c.1785+2T>C	rs1448380294
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)	rs869320686
NM_006912.6(RIT1):c.268A>G (p.Met90Val)	rs1557960039

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