ClinVar Miner

List of variants reported as benign for RASopathy by Invitae

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 492
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HGVS dbSNP gnomAD frequency
NM_152594.3(SPRED1):c.291G>A (p.Lys97=) rs7182445 0.82029
NM_152594.3(SPRED1):c.424-8C>A rs7180446 0.82015
NM_152594.3(SPRED1):c.1044T>C (p.Val348=) rs3751526 0.81965
NM_006912.6(RIT1):c.430-7C>T rs1749409 0.80479
NM_030662.4(MAP2K2):c.919+12A>G rs350911 0.74641
NM_006270.5(RRAS):c.344+13G>A rs1368464 0.71978
NM_006270.5(RRAS):c.333C>T (p.Asn111=) rs1865077 0.71974
NM_005188.4(CBL):c.1095+19G>T rs2510152 0.61865
NM_006939.4(SOS2):c.2232C>T (p.Asn744=) rs2229869 0.60005
NM_001042492.3(NF1):c.702G>A (p.Leu234=) rs1801052 0.56607
NM_001042492.3(NF1):c.1393-32T>C rs2905876 0.52881
NM_030662.4(MAP2K2):c.1092+341C>A rs2289859 0.50318
NM_001042492.3(NF1):c.5609+19T>A rs2285894 0.49901
NM_033360.4(KRAS):c.*298T>G rs712 0.45514
NM_001042492.3(NF1):c.2034G>A (p.Pro678=) rs2285892 0.42930
NM_030662.4(MAP2K2):c.660C>A (p.Ile220=) rs10250 0.42547
NM_005343.4(HRAS):c.81T>C (p.His27=) rs12628 0.34645
NM_006939.4(SOS2):c.88-6T>C rs12888783 0.31349
NM_004333.6(BRAF):c.1929A>G (p.Gly643=) rs9648696 0.30796
NM_152594.3(SPRED1):c.424-18G>A rs7179118 0.23890
NM_006270.5(RRAS):c.454-10C>G rs731861 0.23663
NM_004985.5(KRAS):c.519T>C (p.Asp173=) rs1137282 0.19563
NM_006939.4(SOS2):c.3490-18A>C rs79858475 0.14981
NM_030662.4(MAP2K2):c.453C>T (p.Asp151=) rs17851657 0.13902
NM_001042492.3(NF1):c.6642+45T>A rs17883614 0.12771
NM_002834.3(PTPN11):c.-273G>A rs58805176 0.10884
NM_002755.4(MAP2K1):c.1023-8C>T rs41306345 0.09409
NM_004985.5(KRAS):c.451-9G>A rs12313763 0.08467
NM_030662.4(MAP2K2):c.192C>T (p.Val64=) rs8157 0.06496
NM_033360.4(KRAS):c.*2626T>G rs61764370 0.06273
NM_030662.4(MAP2K2):c.450+15G>T rs10424545 0.04749
NM_030662.4(MAP2K2):c.405G>C (p.Gly135=) rs10424722 0.04706
NM_005343.4(HRAS):c.111+15G>A rs41258054 0.04363
NM_030662.4(MAP2K2):c.528+20A>G rs73918030 0.04206
NM_002834.5(PTPN11):c.1093-9C>A rs12301915 0.04151
NM_005633.4(SOS1):c.195A>C (p.Arg65=) rs7609455 0.03809
NM_005343.4(HRAS):c.-10C>T rs41294870 0.03593
NM_005188.4(CBL):c.2592C>T (p.Leu864=) rs1893177 0.03391
NM_006939.4(SOS2):c.1448G>A (p.Ser483Asn) rs17122201 0.02622
NM_001042492.3(NF1):c.2544G>A (p.Gly848=) rs17883704 0.02535
NM_002834.5(PTPN11):c.255C>T (p.His85=) rs61736914 0.02271
NM_001042492.3(NF1):c.4882T>C (p.Leu1628=) rs10512435 0.02270
NM_006939.4(SOS2):c.816T>C (p.Ser272=) rs35396088 0.02130
NM_002880.4(RAF1):c.1755A>G (p.Val585=) rs3730296 0.02125
NM_005188.4(CBL):c.869+4A>G rs77284821 0.02038
NM_001042492.3(NF1):c.7971-19G>T rs17887156 0.01950
NM_002755.4(MAP2K1):c.438+20C>T rs16949939 0.01567
NM_001042492.3(NF1):c.2851-16T>C rs17880825 0.01543
NM_001042492.3(NF1):c.4929G>A (p.Val1643=) rs17880521 0.01527
NM_001042492.3(NF1):c.8113+20G>A rs55747230 0.01406
NM_001042492.3(NF1):c.168C>T (p.Ser56=) rs17881168 0.01374
NM_007373.4(SHOC2):c.457C>T (p.Leu153=) rs34081996 0.01281
NM_002755.4(MAP2K1):c.711G>A (p.Gly237=) rs17586159 0.01226
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084 0.01088
NM_001042492.3(NF1):c.7755C>T (p.Ser2585=) rs17881980 0.01075
NM_005633.4(SOS1):c.1203-20T>C rs112906251 0.01058
NM_002834.5(PTPN11):c.525+12G>C rs41304351 0.01035
NM_001042492.3(NF1):c.1845+13A>T rs17885739 0.01016
NM_006939.4(SOS2):c.2162-4C>A rs57179949 0.00961
NM_001042492.3(NF1):c.2022C>T (p.Ser674=) rs2230851 0.00908
NM_030662.4(MAP2K2):c.303+18G>A rs116988721 0.00894
NM_004333.6(BRAF):c.1315-18T>G rs6959000 0.00840
NM_006939.4(SOS2):c.591A>G (p.Leu197=) rs113460230 0.00834
NM_002755.4(MAP2K1):c.-2A>G rs77796976 0.00820
NM_002880.4(RAF1):c.1669-13T>C rs147475396 0.00819
NM_005633.4(SOS1):c.1964C>T (p.Pro655Leu) rs56219475 0.00787
NM_006912.6(RIT1):c.375C>T (p.Asp125=) rs34831194 0.00759
NM_001042492.3(NF1):c.7322-17C>T rs17884859 0.00744
NM_006939.4(SOS2):c.3075+7C>T rs144391749 0.00743
NM_005188.4(CBL):c.513T>C (p.Ser171=) rs2227987 0.00741
NM_002880.4(RAF1):c.1941C>T (p.Val647=) rs3730297 0.00729
NM_006939.4(SOS2):c.3489+19C>T rs149825446 0.00700
NM_001042492.3(NF1):c.3496+19T>C rs9890283 0.00673
NM_001042492.3(NF1):c.6393C>T (p.His2131=) rs17881788 0.00655
NM_005633.4(SOS1):c.1074+5G>C rs145155424 0.00655
NM_152594.3(SPRED1):c.583-7A>G rs115970207 0.00630
NM_002880.4(RAF1):c.923C>T (p.Pro308Leu) rs5746220 0.00571
NM_007373.4(SHOC2):c.1423-7C>T rs180671383 0.00563
NM_006939.4(SOS2):c.2014C>A (p.Leu672Ile) rs34139502 0.00561
NM_005188.4(CBL):c.1485G>A (p.Pro495=) rs2229072 0.00547
NM_002880.4(RAF1):c.208-17T>C rs3730268 0.00529
NM_005633.4(SOS1):c.2167+6T>G rs186640807 0.00510
NM_005188.4(CBL):c.2710G>A (p.Val904Ile) rs17122769 0.00454
NM_001042492.3(NF1):c.2985G>C (p.Leu995=) rs17881467 0.00426
NM_007373.4(SHOC2):c.1594A>G (p.Ser532Gly) rs145463534 0.00423
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869 0.00421
NM_005633.4(SOS1):c.345+15C>T rs75937422 0.00407
NM_004333.6(BRAF):c.1383A>G (p.Gln461=) rs56216404 0.00399
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00398
NM_006270.5(RRAS):c.397G>A (p.Asp133Asn) rs61760904 0.00394
NM_001042492.3(NF1):c.3498C>T (p.Gly1166=) rs2066733 0.00392
NM_001042492.3(NF1):c.3198-4T>C rs587782218 0.00387
NM_006270.5(RRAS):c.408C>T (p.Pro136=) rs114187560 0.00377
NM_004333.6(BRAF):c.1141-19C>T rs71645959 0.00360
NM_002755.4(MAP2K1):c.927A>T (p.Ala309=) rs146869577 0.00357
NM_001042492.3(NF1):c.2252-31A>T rs141082540 0.00355
NM_001042492.3(NF1):c.4577+12C>T rs17878332 0.00352
NM_005633.4(SOS1):c.2997T>C (p.Asn999=) rs145364368 0.00352
NM_006939.4(SOS2):c.1344G>A (p.Leu448=) rs35530861 0.00350
NM_004333.6(BRAF):c.1227A>G (p.Ser409=) rs145035762 0.00318
NM_001042492.3(NF1):c.340C>T (p.Leu114=) rs7207410 0.00309
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=) rs17887014 0.00305
NM_005633.4(SOS1):c.2673+14T>C rs183998234 0.00304
NM_030662.4(MAP2K2):c.846C>T (p.Pro282=) rs11539506 0.00282
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu) rs2229073 0.00281
NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr) rs140811086 0.00280
NM_004333.6(BRAF):c.1517+20T>C rs71645980 0.00273
NM_007373.4(SHOC2):c.1302C>T (p.Asn434=) rs146147503 0.00262
NM_002834.5(PTPN11):c.332+17T>G rs115658366 0.00257
NM_001042492.3(NF1):c.4269A>G (p.Glu1423=) rs17886566 0.00238
NM_005633.4(SOS1):c.570C>T (p.Asp190=) rs55980502 0.00233
NM_005188.4(CBL):c.869+19A>G rs181589369 0.00232
NM_005633.4(SOS1):c.3081+13A>G rs189695571 0.00223
NM_005343.4(HRAS):c.477G>A (p.Leu159=) rs140060409 0.00222
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp) rs144383241 0.00222
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889 0.00220
NM_005633.4(SOS1):c.1230G>A (p.Gln410=) rs141390073 0.00217
NM_152594.3(SPRED1):c.926T>C (p.Val309Ala) rs114636635 0.00204
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val) rs147327414 0.00195
NM_001042492.3(NF1):c.2553C>T (p.Cys851=) rs2230852 0.00190
NM_001042492.3(NF1):c.7531G>C (p.Val2511Leu) rs2230850 0.00189
NM_005188.4(CBL):c.1359A>C (p.Pro453=) rs34732429 0.00188
NM_005188.4(CBL):c.870-19del rs548130600 0.00185
NM_030662.4(MAP2K2):c.580+6G>A rs201435249 0.00183
NM_030662.4(MAP2K2):c.303+11C>T rs200405512 0.00179
NM_005188.4(CBL):c.2484G>A (p.Pro828=) rs149533467 0.00166
NM_005633.4(SOS1):c.2988G>A (p.Pro996=) rs35462677 0.00156
NM_001042492.3(NF1):c.846G>A (p.Gln282=) rs138840528 0.00149
NM_005188.4(CBL):c.2190G>C (p.Thr730=) rs143840974 0.00137
NM_005633.4(SOS1):c.213+16T>C rs150536159 0.00128
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=) rs55865524 0.00127
NM_001042492.3(NF1):c.1846-12A>T rs188510882 0.00124
NM_001042492.3(NF1):c.4577+11C>G rs190614908 0.00124
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) rs142712751 0.00123
NM_002524.5(NRAS):c.225C>T (p.Gly75=) rs142739534 0.00123
NM_002755.4(MAP2K1):c.648C>T (p.Ile216=) rs148968935 0.00123
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe) rs2227988 0.00121
NM_005343.4(HRAS):c.357C>T (p.Asp119=) rs111352454 0.00121
NM_004333.6(BRAF):c.1433-19A>G rs369635503 0.00114
NM_005188.4(CBL):c.2466G>A (p.Arg822=) rs556564719 0.00114
NM_002755.4(MAP2K1):c.1137C>T (p.Ile379=) rs150841154 0.00103
NM_006939.4(SOS2):c.858+9A>G rs201701595 0.00101
NM_033360.4(KRAS):c.5-18A>G rs200189105 0.00100
NM_002834.5(PTPN11):c.526-17T>C rs375184329 0.00096
NM_006939.4(SOS2):c.213+18A>T rs143888968 0.00096
NM_005188.4(CBL):c.1227+20dup rs530081144 0.00095
NM_152594.3(SPRED1):c.675C>T (p.Ser225=) rs144764225 0.00092
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) rs138186428 0.00089
NM_001042492.3(NF1):c.8114-70A>T rs192112633 0.00088
NM_002880.4(RAF1):c.1830A>G (p.Gln610=) rs141791080 0.00088
NM_002880.4(RAF1):c.581+4A>G rs201776526 0.00087
NM_005633.4(SOS1):c.2238T>C (p.Asn746=) rs75877625 0.00084
NM_001042492.3(NF1):c.3468C>T (p.Asn1156=) rs147955381 0.00083
NM_001042492.3(NF1):c.3270A>C (p.Gly1090=) rs150015024 0.00079
NM_005188.4(CBL):c.2036+9G>T rs142704935 0.00076
NM_005188.4(CBL):c.2269G>A (p.Ala757Thr) rs146517083 0.00076
NM_030662.4(MAP2K2):c.498C>T (p.Pro166=) rs139404261 0.00076
NM_005188.4(CBL):c.1641T>C (p.Pro547=) rs61755280 0.00074
NM_002755.4(MAP2K1):c.1069-16G>A rs146942812 0.00073
NM_152594.3(SPRED1):c.207+15A>G rs377288061 0.00073
NM_030662.4(MAP2K2):c.603C>T (p.Leu201=) rs148291450 0.00072
NM_006270.5(RRAS):c.453+20C>T rs117957448 0.00071
NM_030662.4(MAP2K2):c.823C>T (p.Leu275=) rs145934142 0.00070
NM_152594.3(SPRED1):c.939G>A (p.Thr313=) rs140644874 0.00070
NM_004333.6(BRAF):c.1332G>A (p.Arg444=) rs56101602 0.00068
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val) rs148154172 0.00066
NM_004333.6(BRAF):c.981-20C>T rs374896031 0.00066
NM_005633.4(SOS1):c.3391+7A>G rs201982464 0.00066
NM_002834.5(PTPN11):c.526-8C>A rs184804143 0.00064
NM_001042492.3(NF1):c.3198-3dup rs1555614816 0.00063
NM_006270.5(RRAS):c.243C>T (p.Ile81=) rs116683551 0.00063
NM_002755.4(MAP2K1):c.315C>T (p.Pro105=) rs144166521 0.00061
NM_002880.4(RAF1):c.320+19A>G rs5746197 0.00061
NM_006939.4(SOS2):c.3602A>G (p.His1201Arg) rs555945363 0.00061
NM_006939.4(SOS2):c.621C>T (p.Ile207=) rs147109760 0.00061
NM_001042492.3(NF1):c.7410T>C (p.Asn2470=) rs17881903 0.00059
NM_030662.4(MAP2K2):c.1074G>A (p.Ala358=) rs140896887 0.00059
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753 0.00058
NM_001042492.3(NF1):c.6147+11T>C rs201275748 0.00058
NM_002755.4(MAP2K1):c.69C>T (p.Thr23=) rs140749690 0.00054
NM_030662.4(MAP2K2):c.303+8C>G rs199612401 0.00054
NM_001042492.3(NF1):c.6379A>G (p.Ile2127Val) rs200022550 0.00053
NM_006939.4(SOS2):c.700C>T (p.Leu234=) rs145848231 0.00053
NM_001042492.3(NF1):c.7461A>G (p.Thr2487=) rs149924365 0.00052
NM_007373.4(SHOC2):c.1162-16T>G rs376859485 0.00052
NM_005633.4(SOS1):c.2760G>A (p.Arg920=) rs149092581 0.00051
NM_001042492.3(NF1):c.8151G>A (p.Pro2717=) rs2285895 0.00050
NM_005633.4(SOS1):c.345+12_345+13dup rs397517167 0.00050
NM_005633.4(SOS1):c.1203-13T>A rs145166996 0.00049
NM_002834.5(PTPN11):c.1379+20C>T rs184743462 0.00047
NM_006939.4(SOS2):c.346-10C>G rs146395803 0.00046
NM_004333.6(BRAF):c.2127+3A>G rs371976102 0.00043
NM_006939.4(SOS2):c.2959-20T>C rs375042033 0.00041
NM_005188.4(CBL):c.1564-13C>T rs117902985 0.00039
NM_001042492.3(NF1):c.731-6A>C rs369366499 0.00037
NM_030662.4(MAP2K2):c.919+11A>T rs572591550 0.00036
NM_030662.4(MAP2K2):c.1140C>T (p.Ala380=) rs146618055 0.00034
NM_030662.4(MAP2K2):c.893C>T (p.Pro298Leu) rs200371894 0.00034
NM_007373.4(SHOC2):c.704-16G>T rs185614302 0.00033
NM_001042492.3(NF1):c.1933A>G (p.Met645Val) rs146051850 0.00032
NM_001042492.3(NF1):c.4851A>G (p.Gln1617=) rs150309802 0.00032
NM_002880.4(RAF1):c.321-14T>A rs3730270 0.00032
NM_030662.4(MAP2K2):c.93-20A>C rs189388604 0.00032
NM_001042492.3(NF1):c.1137C>T (p.Cys379=) rs139648455 0.00031
NM_001042492.3(NF1):c.8041A>G (p.Ile2681Val) rs146315101 0.00031
NM_001042492.3(NF1):c.6922-16A>G rs202158964 0.00030
NM_004333.6(BRAF):c.2235A>G (p.Leu745=) rs56046546 0.00030
NM_001042492.3(NF1):c.1976G>A (p.Arg659Gln) rs151138158 0.00029
NM_006939.4(SOS2):c.315G>T (p.Leu105=) rs141575190 0.00027
NM_001042492.3(NF1):c.5883G>A (p.Lys1961=) rs144808600 0.00026
NM_004333.6(BRAF):c.64G>A (p.Asp22Asn) rs397507456 0.00025
NM_001042492.3(NF1):c.369C>G (p.Thr123=) rs146691765 0.00024
NM_002880.4(RAF1):c.1537-11G>A rs182394722 0.00024
NM_005633.4(SOS1):c.1770G>A (p.Glu590=) rs553331572 0.00022
NM_004985.5(KRAS):c.264A>G (p.Lys88=) rs370920665 0.00021
NM_030662.4(MAP2K2):c.450+17C>T rs199892711 0.00021
NM_001042492.3(NF1):c.8499T>C (p.Asn2833=) rs142636150 0.00020
NM_006939.4(SOS2):c.2712A>G (p.Glu904=) rs143332839 0.00020
NM_001042492.3(NF1):c.1032A>G (p.Leu344=) rs199832006 0.00019
NM_005633.4(SOS1):c.1705C>G (p.Leu569Val) rs200786705 0.00019
NM_007373.4(SHOC2):c.841+12G>A rs201258692 0.00019
NM_001042492.3(NF1):c.654+28A>G rs372419907 0.00018
NM_005633.4(SOS1):c.2964+17A>G rs201906525 0.00018
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val) rs201712827 0.00017
NM_002880.4(RAF1):c.119G>A (p.Arg40His) rs192632236 0.00016
NM_030662.4(MAP2K2):c.420C>T (p.Asp140=) rs369925884 0.00016
NM_001042492.3(NF1):c.6929C>T (p.Pro2310Leu) rs148736217 0.00015
NM_001042492.3(NF1):c.7368A>G (p.Lys2456=) rs201287021 0.00014
NM_002880.4(RAF1):c.1587G>A (p.Ser529=) rs114687276 0.00014
NM_006939.4(SOS2):c.2668-13T>C rs368749459 0.00014
NM_030662.4(MAP2K2):c.529-12G>A rs375701469 0.00014
NM_030662.4(MAP2K2):c.529-15C>T rs778783152 0.00014
NM_030662.4(MAP2K2):c.580+15G>A rs370921720 0.00014
NM_001042492.3(NF1):c.1599C>G (p.Val533=) rs369458366 0.00013
NM_002880.4(RAF1):c.94A>G (p.Ile32Val) rs372738063 0.00013
NM_004333.6(BRAF):c.504+17A>G rs201797624 0.00013
NM_005633.4(SOS1):c.3072C>T (p.Leu1024=) rs558386297 0.00013
NM_006939.4(SOS2):c.2625A>T (p.Ala875=) rs761442415 0.00013
NM_001042492.3(NF1):c.5049C>T (p.Asn1683=) rs140994965 0.00012
NM_004333.6(BRAF):c.968C>T (p.Ser323Leu) rs397516907 0.00012
NM_001042492.3(NF1):c.1005T>C (p.Asn335=) rs777369021 0.00011
NM_001042492.3(NF1):c.960T>A (p.Ala320=) rs376447070 0.00011
NM_002834.5(PTPN11):c.558G>T (p.Arg186=) rs200920312 0.00011
NM_004333.6(BRAF):c.36G>A (p.Ala12=) rs397507454 0.00011
NM_001042492.3(NF1):c.2178G>C (p.Val726=) rs369590240 0.00010
NM_001042492.3(NF1):c.2252-34T>C rs200937398 0.00010
NM_152594.3(SPRED1):c.26A>T (p.Asp9Val) rs200157475 0.00010
NM_001042492.3(NF1):c.7322-14C>T rs377244887 0.00009
NM_005188.4(CBL):c.590+20A>G rs769677676 0.00009
NM_006939.4(SOS2):c.2520A>G (p.Ala840=) rs775682587 0.00009
NM_006939.4(SOS2):c.3066A>G (p.Pro1022=) rs201696354 0.00009
NM_030662.4(MAP2K2):c.1020C>T (p.Pro340=) rs192389729 0.00009
NM_004333.6(BRAF):c.375T>G (p.Ser125=) rs201507202 0.00008
NM_005188.4(CBL):c.195+13C>T rs893347300 0.00008
NM_007373.4(SHOC2):c.1161+9A>G rs201795589 0.00008
NM_005188.4(CBL):c.1299G>A (p.Pro433=) rs199633558 0.00007
NM_006939.4(SOS2):c.2707G>A (p.Val903Met) rs745788940 0.00007
NM_001042492.3(NF1):c.7870-8C>A rs372441422 0.00006
NM_002524.5(NRAS):c.36T>G (p.Gly12=) rs759764705 0.00006
NM_004333.6(BRAF):c.504+19C>T rs780617193 0.00006
NM_005188.4(CBL):c.1643C>T (p.Pro548Leu) rs17848897 0.00006
NM_005188.4(CBL):c.2252-8T>C rs555179188 0.00006
NM_005343.4(HRAS):c.369C>T (p.Arg123=) rs200945755 0.00006
NM_005633.4(SOS1):c.3515T>C (p.Met1172Thr) rs537874171 0.00006
NM_006939.4(SOS2):c.2605G>A (p.Val869Ile) rs373143128 0.00006
NM_006939.4(SOS2):c.36C>T (p.Ser12=) rs377290612 0.00006
NM_006939.4(SOS2):c.720C>T (p.Ile240=) rs373852615 0.00006
NM_030662.4(MAP2K2):c.581-18G>A rs372759920 0.00006
NM_001042492.3(NF1):c.2188A>T (p.Asn730Tyr) rs758893131 0.00005
NM_001042492.3(NF1):c.5523A>G (p.Gln1841=) rs151046636 0.00005
NM_005343.4(HRAS):c.222C>T (p.Thr74=) rs372223975 0.00005
NM_006939.4(SOS2):c.121A>G (p.Asn41Asp) rs575983927 0.00005
NM_030662.4(MAP2K2):c.690G>A (p.Thr230=) rs201287884 0.00005
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala) rs143836226 0.00004
NM_001042492.3(NF1):c.5812+8A>G rs372075322 0.00004
NM_005343.4(HRAS):c.36C>T (p.Gly12=) rs727504424 0.00004
NM_005633.4(SOS1):c.115G>A (p.Glu39Lys) rs375934353 0.00004
NM_005633.4(SOS1):c.2953T>G (p.Ser985Ala) rs754676663 0.00004
NM_005633.4(SOS1):c.3350A>G (p.Asn1117Ser) rs754314057 0.00004
NM_005633.4(SOS1):c.3737A>G (p.Asn1246Ser) rs374110460 0.00004
NM_005633.4(SOS1):c.3859A>G (p.Ile1287Val) rs760917490 0.00004
NM_006939.4(SOS2):c.338C>T (p.Ser113Leu) rs751240491 0.00004
NM_006939.4(SOS2):c.3520G>A (p.Ala1174Thr) rs935249167 0.00004
NM_006939.4(SOS2):c.3553G>T (p.Val1185Leu) rs778368766 0.00004
NM_006939.4(SOS2):c.970-19A>G rs369274700 0.00004
NM_007373.4(SHOC2):c.10A>C (p.Ser4Arg) rs397517231 0.00004
NM_030662.4(MAP2K2):c.528+11C>T rs369913089 0.00004
NM_152594.3(SPRED1):c.32+20C>T rs374284804 0.00004
NM_001042492.3(NF1):c.*4T>C rs201044568 0.00003
NM_002755.4(MAP2K1):c.569-13C>T rs770040428 0.00003
NM_004333.6(BRAF):c.1068A>G (p.Gln356=) rs143335467 0.00003
NM_004333.6(BRAF):c.1694+14G>A rs184144181 0.00003
NM_004333.6(BRAF):c.708C>T (p.Asn236=) rs138333692 0.00003
NM_005633.4(SOS1):c.141T>C (p.Tyr47=) rs201649682 0.00003
NM_005633.4(SOS1):c.510+9C>G rs553448375 0.00003
NM_006939.4(SOS2):c.2668-4T>C rs763298498 0.00003
NM_007373.4(SHOC2):c.886C>T (p.Leu296=) rs199723694 0.00003
NM_030662.4(MAP2K2):c.141C>T (p.Asp47=) rs201526172 0.00003
NM_001042492.3(NF1):c.2617C>T (p.Arg873Cys) rs199474739 0.00002
NM_001042492.3(NF1):c.367A>G (p.Thr123Ala) rs587781757 0.00002
NM_001042492.3(NF1):c.529A>G (p.Ile177Val) rs766213678 0.00002
NM_001042492.3(NF1):c.60+16C>A rs780674112 0.00002
NM_001042492.3(NF1):c.6819+11C>T rs201213225 0.00002
NM_005188.4(CBL):c.1777C>T (p.Arg593Trp) rs776999573 0.00002
NM_005633.4(SOS1):c.3838C>A (p.Gln1280Lys) rs548519280 0.00002
NM_005633.4(SOS1):c.979A>G (p.Ile327Val) rs758546951 0.00002
NM_006939.4(SOS2):c.3641A>T (p.Asp1214Val) rs772043913 0.00002
NM_007373.4(SHOC2):c.894A>C (p.Ala298=) rs767912952 0.00002
NM_152594.3(SPRED1):c.879G>A (p.Leu293=) rs535687467 0.00002
NM_001042492.3(NF1):c.2581G>C (p.Ala861Pro) rs768425956 0.00001
NM_001042492.3(NF1):c.2622G>A (p.Lys874=) rs77917884 0.00001
NM_001042492.3(NF1):c.3778A>G (p.Met1260Val) rs1264981144 0.00001
NM_001042492.3(NF1):c.4421C>T (p.Ala1474Val) rs587781553 0.00001
NM_001042492.3(NF1):c.4503C>T (p.Asp1501=) rs577394398 0.00001
NM_001042492.3(NF1):c.7533C>T (p.Val2511=) rs760733171 0.00001
NM_001042492.3(NF1):c.7536C>T (p.Gly2512=) rs786203187 0.00001
NM_001042492.3(NF1):c.8515G>A (p.Val2839Met) rs368149035 0.00001
NM_001042492.3(NF1):c.888+5G>A rs556444929 0.00001
NM_002524.5(NRAS):c.159G>A (p.Leu53=) rs114668710 0.00001
NM_002755.4(MAP2K1):c.1098T>C (p.Ala366=) rs200293968 0.00001
NM_002755.4(MAP2K1):c.804C>G (p.Ala268=) rs371652992 0.00001
NM_002834.5(PTPN11):c.1092+10A>G rs758723402 0.00001
NM_002834.5(PTPN11):c.1650G>A (p.Ala550=) rs374896287 0.00001
NM_002834.5(PTPN11):c.951G>A (p.Lys317=) rs576405446 0.00001
NM_002880.4(RAF1):c.1914G>A (p.Thr638=) rs144876026 0.00001
NM_004333.6(BRAF):c.712-18T>C rs535496777 0.00001
NM_005343.4(HRAS):c.378A>G (p.Glu126=) rs397517140 0.00001
NM_005633.4(SOS1):c.1574T>C (p.Ile525Thr) rs146722878 0.00001
NM_005633.4(SOS1):c.2158A>G (p.Thr720Ala) rs367634525 0.00001
NM_005633.4(SOS1):c.3274G>A (p.Ala1092Thr) rs373948887 0.00001
NM_005633.4(SOS1):c.3552T>G (p.Pro1184=) rs200485215 0.00001
NM_005633.4(SOS1):c.3610A>G (p.Ile1204Val) rs374497013 0.00001
NM_005633.4(SOS1):c.87+9C>T rs397517179 0.00001
NM_006939.4(SOS2):c.1732A>G (p.Lys578Glu) rs748480687 0.00001
NM_006939.4(SOS2):c.3502T>C (p.Ser1168Pro) rs756607027 0.00001
NM_006939.4(SOS2):c.3944C>T (p.Ser1315Leu) rs865922330 0.00001
NM_152594.3(SPRED1):c.446G>A (p.Ser149Asn) rs373384814 0.00001
NM_000267.3(NF1):c.730+32dup rs71142032
NM_001042492.3(NF1):c.1186-13del rs763903212
NM_001042492.3(NF1):c.1186-7del
NM_001042492.3(NF1):c.1393-3dup rs2143958470
NM_001042492.3(NF1):c.1527+14del rs772159080
NM_001042492.3(NF1):c.1527+14dup rs772159080
NM_001042492.3(NF1):c.1528-9del
NM_001042492.3(NF1):c.1528-9dup rs776722942
NM_001042492.3(NF1):c.1642-6dup rs2144003412
NM_001042492.3(NF1):c.1653T>A (p.Val551=) rs1060503902
NM_001042492.3(NF1):c.1721+19_1721+21del rs762735676
NM_001042492.3(NF1):c.1721+21del
NM_001042492.3(NF1):c.1721+21dup rs762735676
NM_001042492.3(NF1):c.1846-5dup rs779012139
NM_001042492.3(NF1):c.2001+22dup
NM_001042492.3(NF1):c.2015G>T (p.Gly672Val) rs371817372
NM_001042492.3(NF1):c.2032C>A (p.Pro678Thr) rs758691069
NM_001042492.3(NF1):c.205-8del rs2143645174
NM_001042492.3(NF1):c.2211A>T (p.Thr737=) rs1178560430
NM_001042492.3(NF1):c.2251+25dup rs768340418
NM_001042492.3(NF1):c.2409+23del
NM_001042492.3(NF1):c.2685G>T (p.Met895Ile)
NM_001042492.3(NF1):c.2851-21_2851-17del rs758020046
NM_001042492.3(NF1):c.2921A>G (p.Asn974Ser) rs557875547
NM_001042492.3(NF1):c.3197+9dup rs755212937
NM_001042492.3(NF1):c.3198-5_3198-4del rs371047262
NM_001042492.3(NF1):c.321G>A (p.Thr107=) rs786201731
NM_001042492.3(NF1):c.3315-10dup
NM_001042492.3(NF1):c.3665C>T (p.Pro1222Leu)
NM_001042492.3(NF1):c.3709-14del
NM_001042492.3(NF1):c.378A>C (p.Glu126Asp) rs786201914
NM_001042492.3(NF1):c.3975-5dup rs786202231
NM_001042492.3(NF1):c.3975-6_3975-5del rs786202231
NM_001042492.3(NF1):c.4174-8_4174-6del rs751729752
NM_001042492.3(NF1):c.4725-3dup rs2151469976
NM_001042492.3(NF1):c.480-3dup rs2143706767
NM_001042492.3(NF1):c.5812+18del rs2151545079
NM_001042492.3(NF1):c.5813-5del rs775451791
NM_001042492.3(NF1):c.5813-5dup rs775451791
NM_001042492.3(NF1):c.587-5dup rs759349569
NM_001042492.3(NF1):c.61-4del rs551568608
NM_001042492.3(NF1):c.61-4dup rs551568608
NM_001042492.3(NF1):c.6147+8C>G rs182709912
NM_001042492.3(NF1):c.6643-3dup rs35917458
NM_001042492.3(NF1):c.6705-9dup
NM_001042492.3(NF1):c.6781C>T (p.His2261Tyr) rs750869272
NM_001042492.3(NF1):c.6922-14_6922-13del rs146785663
NM_001042492.3(NF1):c.7012C>T (p.Leu2338Phe) rs1597848149
NM_001042492.3(NF1):c.7190-5del rs769290414
NM_001042492.3(NF1):c.731-8del rs1438618408
NM_001042492.3(NF1):c.7322-9del rs2151574193
NM_001042492.3(NF1):c.7870-13del rs369360556
NM_001042492.3(NF1):c.7870-13dup rs369360556
NM_001042492.3(NF1):c.7870-20A>G rs574898272
NM_001042492.3(NF1):c.7971-3del
NM_001042492.3(NF1):c.7971-8del rs564545012
NM_001042492.3(NF1):c.7971-8dup rs564545012
NM_001042492.3(NF1):c.8061T>C (p.Ser2687=) rs786202936
NM_001042492.3(NF1):c.8113+22del rs563852879
NM_001042492.3(NF1):c.8161-10del
NM_001042492.3(NF1):c.8206G>A (p.Asp2736Asn) rs1597870148
NM_001042492.3(NF1):c.8378-7del
NM_001042492.3(NF1):c.888+15del rs2143787260
NM_002524.5(NRAS):c.112-24dup rs780595451
NM_002524.5(NRAS):c.222A>G (p.Thr74=)
NM_002524.5(NRAS):c.451-11dup
NM_002524.5(NRAS):c.451-19dup
NM_002524.5(NRAS):c.451-21_451-19del rs754048062
NM_002755.4(MAP2K1):c.1068+12_1068+15del rs397516788
NM_002755.4(MAP2K1):c.291+18A>T rs577549188
NM_002755.4(MAP2K1):c.292-13del
NM_002755.4(MAP2K1):c.438+8A>T rs550240942
NM_002755.4(MAP2K1):c.694-12TC[4] rs113913469
NM_002755.4(MAP2K1):c.81-13del
NM_002834.3(PTPN11):c.-317C>T rs373537430
NM_002834.5(PTPN11):c.1221A>G (p.Gly407=) rs532529560
NM_002834.5(PTPN11):c.15-4del rs1223869705
NM_002834.5(PTPN11):c.1713-14dup
NM_002880.4(RAF1):c.1629G>A (p.Thr543=) rs5746244
NM_002880.4(RAF1):c.1668+19G>T rs5746245
NM_002880.4(RAF1):c.321-14dup rs202103447
NM_002880.4(RAF1):c.680+10dup
NM_004333.6(BRAF):c.1178-12dup
NM_004333.6(BRAF):c.1992+16G>A rs3789806
NM_004333.6(BRAF):c.1992+16G>C rs3789806
NM_004333.6(BRAF):c.1993-10dup
NM_004333.6(BRAF):c.1993-11del rs759069424
NM_004333.6(BRAF):c.1993-11dup rs759069424
NM_004333.6(BRAF):c.2128-26dup rs370332827
NM_004333.6(BRAF):c.2128-5del rs373442098
NM_004333.6(BRAF):c.2128-5dup rs373442098
NM_004985.5(KRAS):c.111+14del
NM_004985.5(KRAS):c.291-10dup
NM_005188.4(CBL):c.107ACC[8] (p.His42dup) rs373212940
NM_005188.4(CBL):c.1228-10dup rs397517078
NM_005188.4(CBL):c.1228-20_1228-17del rs370327162
NM_005188.4(CBL):c.1432-12del
NM_005188.4(CBL):c.1629A>G (p.Pro543=) rs558577411
NM_005188.4(CBL):c.2251+14_2251+22del rs568433114
NM_005188.4(CBL):c.747+16del rs2135299171
NM_005633.4(SOS1):c.1113A>G (p.Glu371=)
NM_005633.4(SOS1):c.1940+18dup
NM_005633.4(SOS1):c.2167+16del rs79984786
NM_005633.4(SOS1):c.2167+16dup rs79984786
NM_005633.4(SOS1):c.2511-9del rs727503436
NM_005633.4(SOS1):c.3713T>C (p.Leu1238Ser)
NM_005633.4(SOS1):c.750A>C (p.Val250=)
NM_005633.4(SOS1):c.976-5dup rs771586560
NM_006270.5(RRAS):c.454-10dup
NM_006270.5(RRAS):c.54A>T (p.Gly18=) rs571103858
NM_006939.4(SOS2):c.1069-6dup rs756206186
NM_006939.4(SOS2):c.1197-5del
NM_006939.4(SOS2):c.1243C>T (p.Leu415=)
NM_006939.4(SOS2):c.1263T>C (p.Asn421=) rs369267864
NM_006939.4(SOS2):c.1833A>G (p.Leu611=)
NM_006939.4(SOS2):c.1935-20C>G rs376985307
NM_006939.4(SOS2):c.2057+20del rs111970905
NM_006939.4(SOS2):c.2786-18dup rs201957103
NM_006939.4(SOS2):c.2786-6del rs201957103
NM_006939.4(SOS2):c.2854G>T (p.Asp952Tyr)
NM_006939.4(SOS2):c.3151A>G (p.Thr1051Ala)
NM_006939.4(SOS2):c.3338-14del rs1362501070
NM_006939.4(SOS2):c.3380-10del rs749810829
NM_006939.4(SOS2):c.3481A>G (p.Asn1161Asp)
NM_006939.4(SOS2):c.3490-13_3490-11dup rs10658395
NM_006939.4(SOS2):c.3490-13_3490-12dup rs10658395
NM_006939.4(SOS2):c.3490-13dup rs10658395
NM_006939.4(SOS2):c.3490-4del rs10658395
NM_006939.4(SOS2):c.3540TCC[4] (p.Pro1183dup) rs765097073
NM_006939.4(SOS2):c.3813G>A (p.Pro1271=) rs2227276
NM_006939.4(SOS2):c.3818G>A (p.Arg1273Gln) rs58365465
NM_006939.4(SOS2):c.3934C>A (p.Arg1312=) rs775973831
NM_006939.4(SOS2):c.3952C>G (p.Pro1318Ala)
NM_006939.4(SOS2):c.564A>G (p.Glu188=)
NM_006939.4(SOS2):c.622G>A (p.Ala208Thr) rs61755579
NM_006939.4(SOS2):c.622G>T (p.Ala208Ser) rs61755579
NM_006939.4(SOS2):c.705T>G (p.Phe235Leu)
NM_006939.4(SOS2):c.714+14del rs2139733668
NM_006939.4(SOS2):c.859-19del
NM_006939.4(SOS2):c.859-4del rs776327707
NM_006939.4(SOS2):c.934T>C (p.Leu312=)
NM_007373.4(SHOC2):c.1540+8C>T rs771283010
NM_007373.4(SHOC2):c.1541-7del rs371544139
NM_007373.4(SHOC2):c.1541-7dup rs371544139
NM_007373.4(SHOC2):c.703+15ATT[3] rs370351651
NM_007373.4(SHOC2):c.973-5del rs730881016
NM_007373.4(SHOC2):c.973-5dup rs730881016
NM_030662.4(MAP2K2):c.225C>T (p.Ile75=) rs561400866
NM_030662.4(MAP2K2):c.303+15del rs758256765
NM_030662.4(MAP2K2):c.581-19C>T rs573730409
NM_030662.4(MAP2K2):c.705+11G>A rs202086678
NM_030662.4(MAP2K2):c.705+11G>C rs202086678
NM_030662.4(MAP2K2):c.93-15dup rs751442889
NM_152594.3(SPRED1):c.582+22del
NM_176795.5(HRAS):c.488_507del (p.Leu163fs) rs776060230

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