ClinVar Miner

List of variants in gene MAP2K1 reported as pathogenic

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_002755.4(MAP2K1):c.124C>T (p.Leu42Phe) rs397516789
NM_002755.4(MAP2K1):c.149T>C (p.Leu50Pro) rs2140578834
NM_002755.4(MAP2K1):c.157T>C (p.Phe53Leu) rs1057519728
NM_002755.4(MAP2K1):c.158T>C (p.Phe53Ser) rs121908594
NM_002755.4(MAP2K1):c.161T>C (p.Leu54Pro) rs2140578916
NM_002755.4(MAP2K1):c.167A>C (p.Gln56Pro) rs1057519729
NM_002755.4(MAP2K1):c.169A>G (p.Lys57Glu) rs397516790
NM_002755.4(MAP2K1):c.170A>T (p.Lys57Met)
NM_002755.4(MAP2K1):c.171G>T (p.Lys57Asn) rs869025608
NM_002755.4(MAP2K1):c.173_187del (p.Gln58_Glu62del) rs2140579005
NM_002755.4(MAP2K1):c.175_177del (p.Lys59del) rs869025339
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002755.4(MAP2K1):c.303_308del (p.Glu102_Ile103del) rs2140583355
NM_002755.4(MAP2K1):c.305A>G (p.Glu102Gly) rs797044593
NM_002755.4(MAP2K1):c.323G>T (p.Arg108Leu) rs727504819
NM_002755.4(MAP2K1):c.332T>A (p.Ile111Asn) rs1057519730
NM_002755.4(MAP2K1):c.332T>G (p.Ile111Ser) rs1057519730
NM_002755.4(MAP2K1):c.355C>T (p.His119Tyr) rs730880503
NM_002755.4(MAP2K1):c.362G>C (p.Cys121Ser) rs1057519731
NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp) rs876657651
NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser) rs1057519732
NM_002755.4(MAP2K1):c.371C>A (p.Pro124Gln) rs397516792
NM_002755.4(MAP2K1):c.371C>G (p.Pro124Arg) rs397516792
NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu) rs397516792
NM_002755.4(MAP2K1):c.383G>C (p.Gly128Ala) rs121908596
NM_002755.4(MAP2K1):c.383G>T (p.Gly128Val) rs121908596
NM_002755.4(MAP2K1):c.383_384delinsTT (p.Gly128Val) rs730880508
NM_002755.4(MAP2K1):c.388T>A (p.Tyr130Asn) rs397516793
NM_002755.4(MAP2K1):c.388T>C (p.Tyr130His) rs397516793
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002755.4(MAP2K1):c.607G>A (p.Glu203Lys) rs1057519733
NM_002755.4(MAP2K1):c.607G>C (p.Glu203Gln) rs1057519733
NM_002755.4(MAP2K1):c.608A>G (p.Glu203Gly) rs727503996
NM_002755.4(MAP2K1):c.790C>T (p.Pro264Ser) rs1057519734

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