ClinVar Miner

List of variants in gene MAP2K2 reported as uncertain significance by ClinGen RASopathy Variant Curation Expert Panel

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Gene type:
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Total variants: 8
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NM_030662.3(MAP2K2):c.1112G>A (p.Arg371Gln) rs730880514
NM_030662.3(MAP2K2):c.692G>A (p.Arg231His) rs730880511
NM_030662.3(MAP2K2):c.692G>T (p.Arg231Leu) rs730880511
NM_030662.3(MAP2K2):c.842G>A (p.Arg281Gln) rs1332074575
NM_030662.4(MAP2K2):c.1187C>T (p.Thr396Met) rs117945277
NM_030662.4(MAP2K2):c.281C>T (p.Ser94Leu) rs202220799
NM_030662.4(MAP2K2):c.784G>A (p.Val262Ile) rs138873805
NM_030662.4(MAP2K2):c.806C>G (p.Pro269Arg) rs368064728

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