ClinVar Miner

List of variants in gene MAP2K1 reported as likely benign for RASopathy

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Total variants: 169
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HGVS dbSNP gnomAD frequency
NM_002755.4(MAP2K1):c.69C>T (p.Thr23=) rs140749690 0.00054
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.726G>T (p.Val242=) rs373745627 0.00013
NM_002755.4(MAP2K1):c.636C>T (p.Ser212=) rs138466751 0.00011
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.396G>A (p.Ala132=) rs139364105 0.00006
NM_002755.4(MAP2K1):c.569-19T>A rs371099866 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.1038C>T (p.Pro346=) rs547178339 0.00004
NM_002755.4(MAP2K1):c.198C>T (p.Asp66=) rs56200325 0.00004
NM_002755.4(MAP2K1):c.291+20C>T rs756056132 0.00004
NM_002755.4(MAP2K1):c.439-8G>A rs747709090 0.00004
NM_002755.4(MAP2K1):c.81-20T>G rs373883835 0.00004
NM_002755.4(MAP2K1):c.1022+12C>T rs753580791 0.00003
NM_002755.4(MAP2K1):c.1023-20C>T rs200542677 0.00003
NM_002755.4(MAP2K1):c.156C>T (p.Ala52=) rs147489724 0.00003
NM_002755.4(MAP2K1):c.177G>A (p.Lys59=) rs773928828 0.00003
NM_002755.4(MAP2K1):c.276G>C (p.Leu92=) rs377323150 0.00003
NM_002755.4(MAP2K1):c.569-18A>G rs886539818 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.80+9G>A rs1219385230 0.00003
NM_002755.4(MAP2K1):c.1005A>G (p.Gln335=) rs1057520833 0.00002
NM_002755.4(MAP2K1):c.12G>A (p.Lys4=) rs1489477346 0.00002
NM_002755.4(MAP2K1):c.147C>A (p.Arg49=) rs756073029 0.00002
NM_002755.4(MAP2K1):c.279C>T (p.Val93=) rs140387057 0.00002
NM_002755.4(MAP2K1):c.378C>T (p.Ile126=) rs369401783 0.00002
NM_002755.4(MAP2K1):c.411C>T (p.Gly137=) rs146415623 0.00002
NM_002755.4(MAP2K1):c.517-4C>T rs200197244 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.1022+10C>T rs397516787 0.00001
NM_002755.4(MAP2K1):c.1022+16G>A rs757073344 0.00001
NM_002755.4(MAP2K1):c.234T>C (p.Asn78=) rs1326124619 0.00001
NM_002755.4(MAP2K1):c.255C>T (p.Val85=) rs1052147663 0.00001
NM_002755.4(MAP2K1):c.292-8T>A rs966429123 0.00001
NM_002755.4(MAP2K1):c.366C>T (p.Asn122=) rs990673168 0.00001
NM_002755.4(MAP2K1):c.372G>A (p.Pro124=) rs750270430 0.00001
NM_002755.4(MAP2K1):c.39G>A (p.Pro13=) rs876657503 0.00001
NM_002755.4(MAP2K1):c.405C>T (p.Ser135=) rs767989355 0.00001
NM_002755.4(MAP2K1):c.439-7A>T rs964442363 0.00001
NM_002755.4(MAP2K1):c.549G>A (p.Lys183=) rs747352922 0.00001
NM_002755.4(MAP2K1):c.565A>C (p.Arg189=) rs776763061 0.00001
NM_002755.4(MAP2K1):c.568+9T>C rs748379069 0.00001
NM_002755.4(MAP2K1):c.585C>T (p.Asn195=) rs1437805160 0.00001
NM_002755.4(MAP2K1):c.693+20T>C rs753107656 0.00001
NM_002755.4(MAP2K1):c.694-20del rs1404899700 0.00001
NM_002755.4(MAP2K1):c.694-9C>T rs768336682 0.00001
NM_002755.4(MAP2K1):c.792T>G (p.Pro264=) rs764379969 0.00001
NM_002755.4(MAP2K1):c.810G>A (p.Glu270=) rs745891583 0.00001
NM_002755.4(MAP2K1):c.834G>A (p.Gln278=) rs148151221 0.00001
NM_002755.4(MAP2K1):c.879C>T (p.Pro293=) rs370521459 0.00001
NM_002755.4(MAP2K1):c.896-7T>C rs772786705 0.00001
NM_002755.4(MAP2K1):c.1023-17G>C rs759861076
NM_002755.4(MAP2K1):c.1023-4T>A
NM_002755.4(MAP2K1):c.1035C>T (p.Asn345=)
NM_002755.4(MAP2K1):c.1045A>C (p.Arg349=) rs1595888749
NM_002755.4(MAP2K1):c.108G>A (p.Lys36=) rs1269147448
NM_002755.4(MAP2K1):c.139C>A (p.Arg47=)
NM_002755.4(MAP2K1):c.153G>A (p.Glu51=)
NM_002755.4(MAP2K1):c.15G>A (p.Lys5=) rs2140511623
NM_002755.4(MAP2K1):c.255C>A (p.Val85=) rs1052147663
NM_002755.4(MAP2K1):c.288A>G (p.Arg96=) rs2140580028
NM_002755.4(MAP2K1):c.291+14G>T rs1217523374
NM_002755.4(MAP2K1):c.291+14_291+16del
NM_002755.4(MAP2K1):c.291+14_291+20delinsTCTCACCAATCACCA rs1064795401
NM_002755.4(MAP2K1):c.291+15A>C rs1337930990
NM_002755.4(MAP2K1):c.291+17T>C rs1294983448
NM_002755.4(MAP2K1):c.291+19A>C rs752759395
NM_002755.4(MAP2K1):c.291+9G>T
NM_002755.4(MAP2K1):c.292-18T>C
NM_002755.4(MAP2K1):c.292-20T>C
NM_002755.4(MAP2K1):c.333C>T (p.Ile111=)
NM_002755.4(MAP2K1):c.33G>A (p.Leu11=)
NM_002755.4(MAP2K1):c.342G>A (p.Glu114=) rs939141868
NM_002755.4(MAP2K1):c.396G>C (p.Ala132=)
NM_002755.4(MAP2K1):c.396G>T (p.Ala132=) rs139364105
NM_002755.4(MAP2K1):c.411C>G (p.Gly137=)
NM_002755.4(MAP2K1):c.420T>C (p.Ser140=) rs2140584315
NM_002755.4(MAP2K1):c.438+11_438+18del
NM_002755.4(MAP2K1):c.438+13C>T
NM_002755.4(MAP2K1):c.438+15C>T rs1170337728
NM_002755.4(MAP2K1):c.438+16_438+17del
NM_002755.4(MAP2K1):c.438+9C>A
NM_002755.4(MAP2K1):c.438+9C>T
NM_002755.4(MAP2K1):c.439-8G>C
NM_002755.4(MAP2K1):c.439-8G>T rs747709090
NM_002755.4(MAP2K1):c.439-9C>T
NM_002755.4(MAP2K1):c.451C>T (p.Leu151=)
NM_002755.4(MAP2K1):c.516+11del
NM_002755.4(MAP2K1):c.516+12A>T
NM_002755.4(MAP2K1):c.516+13T>C
NM_002755.4(MAP2K1):c.516+16A>G rs1001637882
NM_002755.4(MAP2K1):c.516+17G>A rs2140598431
NM_002755.4(MAP2K1):c.516+9G>C
NM_002755.4(MAP2K1):c.517-10T>C
NM_002755.4(MAP2K1):c.517-13C>G
NM_002755.4(MAP2K1):c.517-16A>T
NM_002755.4(MAP2K1):c.517-9T>A rs758986316
NM_002755.4(MAP2K1):c.519A>T (p.Val173=) rs1471931068
NM_002755.4(MAP2K1):c.525A>G (p.Lys175=) rs1555416880
NM_002755.4(MAP2K1):c.528C>G (p.Gly176=)
NM_002755.4(MAP2K1):c.537T>C (p.Tyr179=) rs1188803242
NM_002755.4(MAP2K1):c.546G>A (p.Glu182=) rs1567012356
NM_002755.4(MAP2K1):c.564C>T (p.His188=)
NM_002755.4(MAP2K1):c.568+9T>A rs748379069
NM_002755.4(MAP2K1):c.569-11C>T rs1892919708
NM_002755.4(MAP2K1):c.569-49_569-6del
NM_002755.4(MAP2K1):c.569-4G>A rs2140667203
NM_002755.4(MAP2K1):c.569-8C>T rs375614631
NM_002755.4(MAP2K1):c.589C>T (p.Leu197=)
NM_002755.4(MAP2K1):c.600C>T (p.Ser200=)
NM_002755.4(MAP2K1):c.603T>C (p.Arg201=)
NM_002755.4(MAP2K1):c.606G>A (p.Gly202=)
NM_002755.4(MAP2K1):c.630G>A (p.Gly210=) rs1595884752
NM_002755.4(MAP2K1):c.63C>T (p.Asn21=)
NM_002755.4(MAP2K1):c.666C>T (p.Ser222=)
NM_002755.4(MAP2K1):c.669C>T (p.Phe223=)
NM_002755.4(MAP2K1):c.693+10G>C
NM_002755.4(MAP2K1):c.693+11A>G
NM_002755.4(MAP2K1):c.693+14T>G
NM_002755.4(MAP2K1):c.694-11C>T
NM_002755.4(MAP2K1):c.694-13_694-10del
NM_002755.4(MAP2K1):c.694-16T>A
NM_002755.4(MAP2K1):c.694-16T>C
NM_002755.4(MAP2K1):c.694-19C>T
NM_002755.4(MAP2K1):c.694-5T>G rs1054274808
NM_002755.4(MAP2K1):c.694-7C>T
NM_002755.4(MAP2K1):c.69C>A (p.Thr23=)
NM_002755.4(MAP2K1):c.6C>G (p.Pro2=)
NM_002755.4(MAP2K1):c.726G>A (p.Val242=)
NM_002755.4(MAP2K1):c.774T>C (p.Val258=)
NM_002755.4(MAP2K1):c.80+16G>C
NM_002755.4(MAP2K1):c.80+18_80+19del
NM_002755.4(MAP2K1):c.81-12A>G
NM_002755.4(MAP2K1):c.81-13C>T
NM_002755.4(MAP2K1):c.81-7G>C
NM_002755.4(MAP2K1):c.828G>A (p.Gly276=)
NM_002755.4(MAP2K1):c.840A>G (p.Glu280=)
NM_002755.4(MAP2K1):c.864C>G (p.Pro288=)
NM_002755.4(MAP2K1):c.873G>A (p.Arg291=)
NM_002755.4(MAP2K1):c.879C>G (p.Pro293=) rs370521459
NM_002755.4(MAP2K1):c.87C>T (p.Asn29=)
NM_002755.4(MAP2K1):c.895+12G>A rs2140675512
NM_002755.4(MAP2K1):c.895+13G>A
NM_002755.4(MAP2K1):c.895+19C>T
NM_002755.4(MAP2K1):c.896-5T>C rs748953467
NM_002755.4(MAP2K1):c.896-5del rs748946786
NM_002755.4(MAP2K1):c.896-6T>C
NM_002755.4(MAP2K1):c.939G>A (p.Leu313=)
NM_002755.4(MAP2K1):c.940T>C (p.Leu314=)
NM_002755.4(MAP2K1):c.960+12C>T
NM_002755.4(MAP2K1):c.960+14G>A rs200963333
NM_002755.4(MAP2K1):c.960+7dup rs1438742251
NM_002755.4(MAP2K1):c.961-10G>C rs2140682882
NM_002755.4(MAP2K1):c.961-18C>T rs2140682866
NM_002755.4(MAP2K1):c.961-19T>C
NM_002755.4(MAP2K1):c.961-6T>C
NM_002755.4(MAP2K1):c.961-8G>T
NM_002755.4(MAP2K1):c.961-8_961-7del
NM_002755.4(MAP2K1):c.96C>T (p.Ala32=)
NM_002755.4(MAP2K1):c.987G>T (p.Val329=)
NM_002755.4(MAP2K1):c.99G>A (p.Leu33=)
NM_002755.4(MAP2K1):c.9G>A (p.Lys3=)

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