ClinVar Miner

List of variants in gene MAP2K1 studied for Cardiofaciocutaneous syndrome 3

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_002755.4(MAP2K1):c.291+22G>C rs16949924 0.27715
NM_002755.4(MAP2K1):c.438+20C>T rs16949939 0.01735
NM_002755.4(MAP2K1):c.1023-4T>A rs1462240441 0.00001
NM_002755.4(MAP2K1):c.427A>G (p.Met143Val) rs533695080 0.00001
NM_002755.4(MAP2K1):c.516+1G>A rs1240248728 0.00001
NM_002755.4(MAP2K1):c.124C>T (p.Leu42Phe) rs397516789
NM_002755.4(MAP2K1):c.147_149dup (p.Leu50_Glu51insLeu)
NM_002755.4(MAP2K1):c.154G>A (p.Ala52Thr) rs2140578863
NM_002755.4(MAP2K1):c.158T>C (p.Phe53Ser) rs121908594
NM_002755.4(MAP2K1):c.174G>T (p.Gln58His) rs2093484335
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.265C>A (p.Pro89Thr) rs1265809314
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.364A>G (p.Asn122Asp) rs876657651
NM_002755.4(MAP2K1):c.370C>A (p.Pro124Thr) rs1057519732
NM_002755.4(MAP2K1):c.370C>G (p.Pro124Ala) rs1057519732
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>C (p.Gly128Ala) rs121908596
NM_002755.4(MAP2K1):c.383G>T (p.Gly128Val) rs121908596
NM_002755.4(MAP2K1):c.385T>C (p.Phe129Leu) rs1057519805
NM_002755.4(MAP2K1):c.388T>A (p.Tyr130Asn) rs397516793
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002755.4(MAP2K1):c.44C>G (p.Pro15Arg)
NM_002755.4(MAP2K1):c.527G>T (p.Gly176Val)
NM_002755.4(MAP2K1):c.568+4A>G rs2545062036
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.646A>G (p.Ile216Val) rs2140667942
NM_002755.4(MAP2K1):c.767T>C (p.Met256Thr) rs1326401609

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