ClinVar Miner

List of variants in gene MAP2K1 studied for not provided

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Gene type:
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Total variants: 158
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HGVS dbSNP gnomAD frequency
NM_002755.4(MAP2K1):c.439-67C>T rs6494573 0.83820
NM_002755.4(MAP2K1):c.517-253C>T rs6494574 0.30025
NM_002755.4(MAP2K1):c.291+22G>C rs16949924 0.27222
NM_002755.4(MAP2K1):c.292-133A>C rs11637556 0.21057
NM_002755.4(MAP2K1):c.569-118G>A rs41277720 0.17542
NM_002755.4(MAP2K1):c.516+191G>A rs17201019 0.14207
NM_002755.4(MAP2K1):c.291+199C>T rs66975215 0.12011
NM_002755.4(MAP2K1):c.960+68C>T rs41315964 0.09424
NM_002755.4(MAP2K1):c.1023-8C>T rs41306345 0.09409
NM_002755.4(MAP2K1):c.517-311C>A rs112381615 0.07480
NM_002755.4(MAP2K1):c.896-291G>C rs36047146 0.05688
NM_002755.4(MAP2K1):c.961-254_961-251del rs34067330 0.05667
NM_002755.3(MAP2K1):c.-547C>T rs77540803 0.02251
NM_002755.4(MAP2K1):c.693+275T>A rs75586043 0.01746
NM_002755.4(MAP2K1):c.895+181A>G rs77824107 0.01717
NM_002755.4(MAP2K1):c.438+20C>T rs16949939 0.01567
NM_002755.4(MAP2K1):c.438+192C>T rs16949944 0.01566
NM_002755.4(MAP2K1):c.80+33C>G rs56149436 0.01549
NM_002755.4(MAP2K1):c.517-139G>T rs138624109 0.01336
NM_002755.4(MAP2K1):c.711G>A (p.Gly237=) rs17586159 0.01226
NM_002755.4(MAP2K1):c.516+283G>A rs192620467 0.00877
NM_002755.4(MAP2K1):c.-2A>G rs77796976 0.00820
NM_002755.4(MAP2K1):c.693+234C>A rs142760272 0.00738
NM_002755.4(MAP2K1):c.517-230A>C rs141721809 0.00672
NM_002755.4(MAP2K1):c.439-168G>A rs187650018 0.00463
NM_002755.4(MAP2K1):c.1023-201del rs149355772 0.00405
NM_002755.4(MAP2K1):c.927A>T (p.Ala309=) rs146869577 0.00357
NM_002755.4(MAP2K1):c.568+198C>T rs116786504 0.00354
NM_002755.4(MAP2K1):c.896-283G>A rs189306997 0.00344
NM_002755.4(MAP2K1):c.516+176A>G rs148929309 0.00322
NM_002755.4(MAP2K1):c.960+297A>G rs565603514 0.00299
NM_002755.4(MAP2K1):c.1023-43C>T rs146169356 0.00221
NM_002755.4(MAP2K1):c.648C>T (p.Ile216=) rs148968935 0.00123
NM_002755.4(MAP2K1):c.80+28G>C rs374238278 0.00118
NM_002755.4(MAP2K1):c.315C>T (p.Pro105=) rs144166521 0.00061
NM_002755.4(MAP2K1):c.516+28A>G rs184208600 0.00050
NM_002755.4(MAP2K1):c.693+50G>C rs58205072 0.00043
NM_002755.4(MAP2K1):c.848C>T (p.Ala283Val) rs144080051 0.00029
NM_002755.4(MAP2K1):c.6C>T (p.Pro2=) rs377720622 0.00025
NM_002755.4(MAP2K1):c.237C>T (p.Gly79=) rs148656020 0.00024
NM_002755.4(MAP2K1):c.895+42G>A rs200724966 0.00021
NM_002755.4(MAP2K1):c.726G>T (p.Val242=) rs373745627 0.00013
NM_002755.4(MAP2K1):c.439-19C>A rs766207567 0.00010
NM_002755.4(MAP2K1):c.292-3C>T rs55694358 0.00007
NM_002755.4(MAP2K1):c.264G>A (p.Lys88=) rs7494832 0.00006
NM_002755.4(MAP2K1):c.277G>A (p.Val93Ile) rs151207265 0.00006
NM_002755.4(MAP2K1):c.396G>A (p.Ala132=) rs139364105 0.00006
NM_002755.4(MAP2K1):c.729G>A (p.Gln243=) rs772752167 0.00005
NM_002755.4(MAP2K1):c.957C>T (p.Asn319=) rs143019052 0.00005
NM_002755.4(MAP2K1):c.439-8G>A rs747709090 0.00004
NM_002755.4(MAP2K1):c.156C>T (p.Ala52=) rs147489724 0.00003
NM_002755.4(MAP2K1):c.276G>C (p.Leu92=) rs377323150 0.00003
NM_002755.4(MAP2K1):c.569-13C>T rs770040428 0.00003
NM_002755.4(MAP2K1):c.693+10G>A rs377034924 0.00003
NM_002755.4(MAP2K1):c.771G>A (p.Ala257=) rs767965126 0.00003
NM_002755.4(MAP2K1):c.1005A>G (p.Gln335=) rs1057520833 0.00002
NM_002755.4(MAP2K1):c.568+11A>T rs769848510 0.00002
NM_002755.4(MAP2K1):c.900C>T (p.Tyr300=) rs147333830 0.00002
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.439-18T>C rs751155864 0.00001
NM_002755.4(MAP2K1):c.568+9T>C rs748379069 0.00001
NM_002755.4(MAP2K1):c.76G>A (p.Ala26Thr) rs1228037386 0.00001
NM_002755.4(MAP2K1):c.792T>G (p.Pro264=) rs764379969 0.00001
NM_002755.4(MAP2K1):c.804C>G (p.Ala268=) rs371652992 0.00001
NM_002755.4(MAP2K1):c.834G>A (p.Gln278=) rs148151221 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.66386730G>A
NC_000015.10:g.66386775C>T
NM_002755.4(MAP2K1):c.1003C>T (p.Gln335Ter)
NM_002755.4(MAP2K1):c.1023-17G>C rs759861076
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.149T>C (p.Leu50Pro) rs2140578834
NM_002755.4(MAP2K1):c.158T>C (p.Phe53Ser) rs121908594
NM_002755.4(MAP2K1):c.167A>C (p.Gln56Pro) rs1057519729
NM_002755.4(MAP2K1):c.170A>T (p.Lys57Met)
NM_002755.4(MAP2K1):c.171G>T (p.Lys57Asn) rs869025608
NM_002755.4(MAP2K1):c.175_177del (p.Lys59del) rs869025339
NM_002755.4(MAP2K1):c.179T>G (p.Val60Gly) rs730880501
NM_002755.4(MAP2K1):c.179_193del (p.Val60_Lys64del) rs1057518078
NM_002755.4(MAP2K1):c.186_200del (p.Glu62_Asp66del) rs1057518080
NM_002755.4(MAP2K1):c.187C>T (p.Leu63=)
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002755.4(MAP2K1):c.275T>G (p.Leu92Arg) rs397516791
NM_002755.4(MAP2K1):c.291+127_291+129dup rs71139499
NM_002755.4(MAP2K1):c.291+128_291+129dup rs71139499
NM_002755.4(MAP2K1):c.291+14_291+20delinsTCTCACCAATCACCA rs1064795401
NM_002755.4(MAP2K1):c.303_308del (p.Glu102_Ile103del) rs2140583355
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.355C>T (p.His119Tyr) rs730880503
NM_002755.4(MAP2K1):c.36C>T (p.Asn12=) rs2140511663
NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser) rs1057519732
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.37C>T (p.Pro13Ser)
NM_002755.4(MAP2K1):c.383G>T (p.Gly128Val) rs121908596
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.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.438+8A>T rs550240942
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.516+230_516+231insAG rs72531931
NM_002755.4(MAP2K1):c.517-2A>T rs1555416876
NM_002755.4(MAP2K1):c.517-9T>A rs758986316
NM_002755.4(MAP2K1):c.520A>G (p.Ile174Val) rs1891814988
NM_002755.4(MAP2K1):c.537T>C (p.Tyr179=) rs1188803242
NM_002755.4(MAP2K1):c.53C>G (p.Ser18Cys) rs1349988835
NM_002755.4(MAP2K1):c.568+14001A>G
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.694-12TC[4] rs113913469
NM_002755.4(MAP2K1):c.694-148G>C rs73471746
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.730T>A (p.Ser244Thr)
NM_002755.4(MAP2K1):c.730T>G (p.Ser244Ala) rs730880507
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.80+14G>A rs1057522314
NM_002755.4(MAP2K1):c.80+195del rs145028363
NM_002755.4(MAP2K1):c.80+33C>T rs56149436
NM_002755.4(MAP2K1):c.80+54G>C rs4483802
NM_002755.4(MAP2K1):c.80+85del rs2140512008
NM_002755.4(MAP2K1):c.80+87del rs71447901
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.896-284dup rs144137205
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
NM_002755.4(MAP2K1):c.9G>A (p.Lys3=)

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