ClinVar Miner

List of variants in gene MAP2K1 reported as likely pathogenic by Database of Curated Mutations (DoCM)

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_002755.4(MAP2K1):c.157T>A (p.Phe53Ile) rs1057519728
NM_002755.4(MAP2K1):c.157T>G (p.Phe53Val) rs1057519728
NM_002755.4(MAP2K1):c.159T>G (p.Phe53Leu) rs1057519908
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>C (p.Lys57Thr) rs1057519909
NM_002755.4(MAP2K1):c.171G>C (p.Lys57Asn) rs869025608
NM_002755.4(MAP2K1):c.171G>T (p.Lys57Asn) rs869025608
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002755.4(MAP2K1):c.296T>C (p.Ile99Thr) rs1057519819
NM_002755.4(MAP2K1):c.308T>A (p.Ile103Asn) rs730880502
NM_002755.4(MAP2K1):c.332T>A (p.Ile111Asn) rs1057519730
NM_002755.4(MAP2K1):c.356A>C (p.His119Pro) rs1057519820
NM_002755.4(MAP2K1):c.360G>C (p.Glu120Asp) rs1057519821
NM_002755.4(MAP2K1):c.360G>T (p.Glu120Asp) rs1057519821
NM_002755.4(MAP2K1):c.361T>A (p.Cys121Ser) rs1057519856
NM_002755.4(MAP2K1):c.362G>C (p.Cys121Ser) rs1057519731
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>T (p.Pro124Leu) rs397516792
NM_002755.4(MAP2K1):c.383G>A (p.Gly128Asp) rs121908596
NM_002755.4(MAP2K1):c.385T>C (p.Phe129Leu) rs1057519805
NM_002755.4(MAP2K1):c.632T>A (p.Val211Asp) rs1057519822
NM_002755.4(MAP2K1):c.644T>C (p.Leu215Pro) rs1057519823

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