List of variants reported as pathogenic for Noonan syndrome; Cardio-facio-cutaneous syndrome by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn)	rs727504317
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe)	rs180177036
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe)	rs180177036
NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys)	rs180177038
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val)	rs397507483
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val)	rs121913369
NM_004333.6(BRAF):c.1801A>C (p.Lys601Gln)	rs121913364
NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr)	rs397507484
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro)	rs180177034
NM_004985.5(KRAS):c.178G>C (p.Gly60Arg)	rs104894359
NM_004985.5(KRAS):c.40G>A (p.Val14Ile)	rs104894365
NM_004985.5(KRAS):c.458A>T (p.Asp153Val)	rs104894360
NM_004985.5(KRAS):c.466T>A (p.Phe156Ile)	rs397517042

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