List of variants studied for Noonan syndrome by MGZ Medical Genetics Center

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)	rs121918457	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_006767.4(LZTR1):c.850C>T (p.Arg284Cys)	rs797045165	0.00001
NM_002834.5(PTPN11):c.1495T>C (p.Ser499Pro)
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg)	rs397507545
NM_002834.5(PTPN11):c.226G>C (p.Glu76Gln)	rs121918464
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)	rs397507520
NM_002834.5(PTPN11):c.772G>A (p.Glu258Lys)	rs1279770165
NM_002834.5(PTPN11):c.855T>G (p.Phe285Leu)	rs397516810
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)	rs121918455
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro)	rs387906661
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)	rs869320686
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu)	rs869025194
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
NM_006939.4(SOS2):c.1648C>G (p.Arg550Gly)	rs1344304906

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