List of variants reported as pathogenic for Noonan syndrome with multiple lentigines by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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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.922A>G (p.Asn308Asp)	rs28933386	0.00001
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly)	rs121918461
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)	rs121918456
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)	rs121918455
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)	rs80338796

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