List of variants studied for Noonan syndrome by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp)	rs397507541	0.00001
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val)	rs397507529	0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)	rs28933386	0.00001
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp)	rs397507505
NM_002834.5(PTPN11):c.417G>T (p.Glu139Asp)	rs397507520
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile)	rs267606990

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