ClinVar Miner

List of variants reported as uncertain significance for Rasopathy by ClinGen RASopathy Variant Curation Expert Panel

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Total variants: 7
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NM_002834.4(PTPN11):c.244A>G (p.Met82Val) rs397507515
NM_002880.3(RAF1):c.1193G>T (p.Arg398Leu) rs730880382
NM_002880.3(RAF1):c.935T>C (p.Val312Ala) rs370243307
NM_007373.3(SHOC2):c.-1C>T rs398124252
NM_007373.3(SHOC2):c.519G>A (p.Met173Ile) rs730881020
NM_030662.3(MAP2K2):c.281C>T (p.Ser94Leu) rs202220799
NM_030662.3(MAP2K2):c.784G>A (p.Val262Ile) rs138873805

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