ClinVar Miner

List of variants in gene MAP2K2 reported by Service de Génétique Moléculaire, Hôpital Robert Debré

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp) rs144383241 0.00222
NM_030662.4(MAP2K2):c.844C>T (p.Pro282Ser) rs142307980 0.00070
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.274A>G (p.Arg92Gly) rs759061964 0.00004
NM_030662.4(MAP2K2):c.811G>A (p.Asp271Asn) rs758031424 0.00001
NM_030662.4(MAP2K2):c.1109A>G (p.Lys370Arg) rs1599278009
NM_030662.4(MAP2K2):c.149A>G (p.Gln50Arg) rs1599307416
NM_030662.4(MAP2K2):c.183A>T (p.Lys61Asn) rs886041310
NM_030662.4(MAP2K2):c.187_192del (p.Lys63_Val64del) rs1599307313
NM_030662.4(MAP2K2):c.325C>G (p.Pro109Ala) rs1060502983
NM_030662.4(MAP2K2):c.376A>G (p.Asn126Asp) rs1057519806
NM_030662.4(MAP2K2):c.640G>A (p.Gly214Arg)
NM_030662.4(MAP2K2):c.643G>T (p.Val215Leu)
NM_030662.4(MAP2K2):c.692G>T (p.Arg231Leu) rs730880511

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