ClinVar Miner

List of variants in gene MAP2K2 reported as likely benign by ClinGen RASopathy Variant Curation Expert Panel

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Total variants: 9
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NM_030662.3(MAP2K2):c.*8C>T rs377675706
NM_030662.3(MAP2K2):c.240G>A (p.Ala80=) rs543217722
NM_030662.3(MAP2K2):c.45C>T (p.Asn15=) rs767770776
NM_030662.3(MAP2K2):c.535C>T (p.Arg179Trp) rs370799450
NM_030662.3(MAP2K2):c.813C>T (p.Asp271=) rs201726622
NM_030662.3(MAP2K2):c.818A>G (p.Lys273Arg) rs539555837
NM_030662.3(MAP2K2):c.847G>T (p.Val283Leu) rs185999703
NM_030662.3(MAP2K2):c.919+4C>T rs763424788
NM_030662.4(MAP2K2):c.1140C>T (p.Ala380=) rs146618055

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