ClinVar Miner

List of variants in gene MAP2K2 reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_030662.3(MAP2K2):c.*8C>T rs377675706 0.00014
NM_030662.4(MAP2K2):c.853G>A (p.Asp285Asn) rs150369301 0.00008
NM_030662.4(MAP2K2):c.1187C>T (p.Thr396Met) rs117945277 0.00004
NM_030662.4(MAP2K2):c.289A>T (p.Ile97Phe) rs373579939 0.00004
NM_030662.4(MAP2K2):c.93-6C>T rs727504836 0.00004
NM_030662.4(MAP2K2):c.938G>A (p.Arg313Gln) rs151133017 0.00004
NM_030662.4(MAP2K2):c.1046+4G>A rs1011864039 0.00003
NM_030662.4(MAP2K2):c.391G>A (p.Val131Met) rs397517413 0.00003
NM_030662.4(MAP2K2):c.326C>T (p.Pro109Leu) rs544242665 0.00002
NM_030662.4(MAP2K2):c.985C>T (p.Pro329Ser) rs727504353 0.00002
NM_030662.4(MAP2K2):c.1061C>T (p.Pro354Leu) rs879819202 0.00001
NM_030662.4(MAP2K2):c.1064C>T (p.Ala355Val) rs768826287 0.00001
NM_030662.4(MAP2K2):c.814G>A (p.Ala272Thr) rs757240576 0.00001
NM_030662.4(MAP2K2):c.169T>A (p.Phe57Ile) rs121434498
NM_030662.4(MAP2K2):c.183A>T (p.Lys61Asn) rs886041310
NM_030662.4(MAP2K2):c.287_288delinsGT (p.Leu96Arg) rs397517412
NM_030662.4(MAP2K2):c.320T>A (p.Ile107Asn) rs1555698037
NM_030662.4(MAP2K2):c.383C>G (p.Pro128Arg) rs267607230
NM_030662.4(MAP2K2):c.578G>A (p.Arg193Gln) rs530342723
NM_030662.4(MAP2K2):c.706-1_706delinsTT rs1599287155
NM_030662.4(MAP2K2):c.806C>G (p.Pro269Arg) rs368064728
NM_030662.4(MAP2K2):c.860AAG[1] (p.Glu288del) rs763469132

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