ClinVar Miner

List of variants reported as likely pathogenic for Noonan syndrome; Cardio-facio-cutaneous syndrome

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Total variants: 10
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HGVS dbSNP
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu) rs121913348
NM_004333.6(BRAF):c.1449A>C (p.Lys483Asn) rs727504375
NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp) rs727502904
NM_004333.6(BRAF):c.739T>G (p.Phe247Val) rs397516903
NM_004333.6(BRAF):c.769C>A (p.Gln257Lys) rs397507469
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) rs104894366
NM_004985.5(KRAS):c.108A>G (p.Ile36Met) rs727503109
NM_004985.5(KRAS):c.179G>T (p.Gly60Val) rs727503108
NM_030662.3(MAP2K2):c.401A>G (p.Tyr134Cys) rs727504370
NM_030662.3(MAP2K2):c.619G>A (p.Glu207Lys) rs727504382

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