ClinVar Miner

List of variants reported as likely pathogenic for Rasopathy by Integrated Genetics/Laboratory Corporation of America

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Total variants: 7
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HGVS dbSNP
NM_002834.4(PTPN11):c.1529A>G (p.Gln510Arg) rs121918470
NM_002834.4(PTPN11):c.802G>A (p.Gly268Ser) rs397507527
NM_002880.3(RAF1):c.775T>C (p.Ser259Pro) rs3730271
NM_002880.3(RAF1):c.782C>G (p.Pro261Arg) rs397516828
NM_002880.3(RAF1):c.788T>G (p.Val263Gly) rs397516830
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) rs180177037
NM_033360.4(KRAS):c.108A>G (p.Ile36Met) rs727503109

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