ClinVar Miner

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

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Total variants: 13
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NM_002755.3(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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