List of variants reported as pathogenic for Noonan syndrome by Center for Human Genetics, Inc, Center for Human Genetics, Inc

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
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_002834.5(PTPN11):c.1471C>A (p.Pro491Thr)	rs397507539
NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr)	rs121918458
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg)	rs397507545
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala)	rs397507509
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)	rs121918466
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)	rs121918455
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly)	rs137852814

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