List of variants reported as likely pathogenic for Noonan syndrome 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp)	rs876657651
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr)	rs397507539
NM_002834.5(PTPN11):c.1472C>A (p.Pro491His)	rs397507540
NM_002834.5(PTPN11):c.691C>T (p.Arg231Ter)	rs2038154558
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser)	rs397507527
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser)	rs397507475
NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys)	rs397516895
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu)	rs180177042
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe)	rs397507466

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