ClinVar Miner

List of variants in gene MAP2K1 reported as uncertain significance for not provided

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_002755.4(MAP2K1):c.277G>A (p.Val93Ile) rs151207265 0.00006
NM_002755.4(MAP2K1):c.693+10G>A rs377034924 0.00003
NM_002755.4(MAP2K1):c.11A>G (p.Lys4Arg) rs761150136 0.00001
NM_002755.4(MAP2K1):c.251A>G (p.Lys84Arg) rs774932586 0.00001
NM_002755.4(MAP2K1):c.76G>A (p.Ala26Thr) rs1228037386 0.00001
NM_002755.4(MAP2K1):c.961C>T (p.Pro321Ser) rs771613524 0.00001
NM_002755.4(MAP2K1):c.984A>C (p.Gly328=) rs773755873 0.00001
NC_000015.10:g.66386775C>T
NM_002755.4(MAP2K1):c.1003C>T (p.Gln335Ter)
NM_002755.4(MAP2K1):c.1024T>G (p.Leu342Val)
NM_002755.4(MAP2K1):c.125T>G (p.Leu42Arg)
NM_002755.4(MAP2K1):c.135G>T (p.Gln45His) rs2093484116
NM_002755.4(MAP2K1):c.139C>T (p.Arg47Ter)
NM_002755.4(MAP2K1):c.179T>G (p.Val60Gly) rs730880501
NM_002755.4(MAP2K1):c.308T>G (p.Ile103Ser) rs730880502
NM_002755.4(MAP2K1):c.323G>A (p.Arg108Gln) rs727504819
NM_002755.4(MAP2K1):c.323G>T (p.Arg108Leu) rs727504819
NM_002755.4(MAP2K1):c.37C>T (p.Pro13Ser)
NM_002755.4(MAP2K1):c.412G>A (p.Glu138Lys) rs730880504
NM_002755.4(MAP2K1):c.42C>G (p.Ala14=) rs2140511693
NM_002755.4(MAP2K1):c.435C>T (p.His145=) rs1369638918
NM_002755.4(MAP2K1):c.438+1_438+5del
NM_002755.4(MAP2K1):c.45del (p.Asp16fs) rs1566991692
NM_002755.4(MAP2K1):c.488A>G (p.Glu163Gly)
NM_002755.4(MAP2K1):c.490C>A (p.Gln164Lys) rs1891772126
NM_002755.4(MAP2K1):c.503A>G (p.Lys168Arg) rs886051366
NM_002755.4(MAP2K1):c.516+1G>A rs1240248728
NM_002755.4(MAP2K1):c.517-2A>T rs1555416876
NM_002755.4(MAP2K1):c.520A>G (p.Ile174Val) rs1891814988
NM_002755.4(MAP2K1):c.53C>G (p.Ser18Cys) rs1349988835
NM_002755.4(MAP2K1):c.568+14001A>G
NM_002755.4(MAP2K1):c.568+14010_568+14032del
NM_002755.4(MAP2K1):c.568+1G>A rs730880505
NM_002755.4(MAP2K1):c.602G>A (p.Arg201His)
NM_002755.4(MAP2K1):c.608A>G (p.Glu203Gly) rs727503996
NM_002755.4(MAP2K1):c.628G>C (p.Gly210Arg) rs2140667730
NM_002755.4(MAP2K1):c.652T>C (p.Ser218Pro) rs2140668016
NM_002755.4(MAP2K1):c.657G>C (p.Met219Ile) rs730880506
NM_002755.4(MAP2K1):c.665C>A (p.Ser222Tyr) rs2140668182
NM_002755.4(MAP2K1):c.681G>T (p.Arg227Ser) rs2140668342
NM_002755.4(MAP2K1):c.692C>T (p.Ser231Leu) rs1473690179
NM_002755.4(MAP2K1):c.694-5T>G rs1054274808
NM_002755.4(MAP2K1):c.709G>A (p.Gly237Arg)
NM_002755.4(MAP2K1):c.729G>T (p.Gln243His) rs772752167
NM_002755.4(MAP2K1):c.739T>C (p.Trp247Arg) rs2140674116
NM_002755.4(MAP2K1):c.754T>G (p.Ser252Ala)
NM_002755.4(MAP2K1):c.763G>A (p.Glu255Lys) rs760016123
NM_002755.4(MAP2K1):c.793C>T (p.Pro265Ser) rs1567025858
NM_002755.4(MAP2K1):c.812T>G (p.Leu271Arg) rs1555420658
NM_002755.4(MAP2K1):c.877C>T (p.Pro293Ser) rs918690546
NM_002755.4(MAP2K1):c.914G>A (p.Arg305Gln) rs1595887104
NM_002755.4(MAP2K1):c.920C>T (p.Pro307Leu) rs2140678942
NM_002755.4(MAP2K1):c.922A>T (p.Met308Leu) rs2140678957
NM_002755.4(MAP2K1):c.928A>G (p.Ile310Val)
NM_002755.4(MAP2K1):c.95C>T (p.Ala32Val)
NM_002755.4(MAP2K1):c.991A>G (p.Ser331Gly)
NM_002755.4(MAP2K1):c.995T>G (p.Leu332Arg) rs1316044036

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