ClinVar Miner

List of variants reported as likely pathogenic for Rasopathy by ClinGen RASopathy Variant Curation Expert Panel

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Total variants: 5
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HGVS dbSNP
NM_002755.3(MAP2K1):c.169A>C (p.Lys57Gln) rs397516790
NM_002880.3(RAF1):c.769T>C (p.Ser257Pro) rs727505017
NM_002880.3(RAF1):c.788T>G (p.Val263Gly) rs397516830
NM_004333.6(BRAF):c.1595G>A (p.Cys532Tyr) rs397507479
NM_030662.3(MAP2K2):c.400T>C (p.Tyr134His) rs121434499

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