ClinVar Miner

List of variants reported as uncertain significance for Noonan syndrome

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 372
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HGVS dbSNP
NC_000001.10:g.(?_155880221)_(156109650_?)del
NC_000014.8:g.(?_50092240)_(50698021_?)dup
NM_001320141.2(RPL6):c.-326C>G rs377496292
NM_002524.4(NRAS):c.-132C>T rs886045109
NM_002524.4(NRAS):c.-179G>C rs886045110
NM_002524.4(NRAS):c.-209A>G rs886045111
NM_002524.4(NRAS):c.-242G>C rs886045112
NM_002524.4(NRAS):c.-245C>T rs886045113
NM_002524.5(NRAS):c.*1062_*1063del rs775070295
NM_002524.5(NRAS):c.*111A>G rs188272768
NM_002524.5(NRAS):c.*1382G>T rs886045105
NM_002524.5(NRAS):c.*1643G>C rs571329214
NM_002524.5(NRAS):c.*1656C>T rs886045104
NM_002524.5(NRAS):c.*2178G>A rs886045103
NM_002524.5(NRAS):c.*2327C>T rs533027827
NM_002524.5(NRAS):c.*2464A>G rs140878667
NM_002524.5(NRAS):c.*2513T>A rs150969241
NM_002524.5(NRAS):c.*2546C>T rs778203603
NM_002524.5(NRAS):c.*2630G>A rs886045102
NM_002524.5(NRAS):c.*2677A>T rs886045101
NM_002524.5(NRAS):c.*2714G>T rs886045100
NM_002524.5(NRAS):c.*2784T>A rs374889066
NM_002524.5(NRAS):c.*2805T>C rs776606789
NM_002524.5(NRAS):c.*2844T>A rs530053161
NM_002524.5(NRAS):c.*2860G>A rs886045099
NM_002524.5(NRAS):c.*3062C>T rs886045098
NM_002524.5(NRAS):c.*3392T>C rs886045097
NM_002524.5(NRAS):c.*3404T>C rs185234485
NM_002524.5(NRAS):c.*344A>G rs746680042
NM_002524.5(NRAS):c.*536C>T rs886045108
NM_002524.5(NRAS):c.*583T>G rs555171083
NM_002524.5(NRAS):c.*774A>G rs886045107
NM_002524.5(NRAS):c.*935dup rs886045106
NM_002524.5(NRAS):c.-106G>T rs755583487
NM_002524.5(NRAS):c.-50A>G rs61758211
NM_002524.5(NRAS):c.225C>T (p.Gly75=) rs142739534
NM_002524.5(NRAS):c.380C>G (p.Thr127Arg) rs779899354
NM_002524.5(NRAS):c.553C>T (p.Pro185Ser) rs374061873
NM_002755.3(MAP2K1):c.-220C>T rs886051365
NM_002755.3(MAP2K1):c.-405T>G rs886051363
NM_002755.3(MAP2K1):c.-456C>G rs886051362
NM_002755.3(MAP2K1):c.-461C>T rs886051361
NM_002755.3(MAP2K1):c.1068+12_1068+15del rs397516788
NM_002755.3(MAP2K1):c.1068+9A>G rs368800650
NM_002755.3(MAP2K1):c.1069-12C>A rs781412352
NM_002755.3(MAP2K1):c.1130C>T (p.Ser377Phe) rs371140798
NM_002755.3(MAP2K1):c.1137C>T (p.Ile379=) rs150841154
NM_002755.3(MAP2K1):c.323G>T (p.Arg108Leu) rs727504819
NM_002755.3(MAP2K1):c.370C>T (p.Pro124Ser) rs1057519732
NM_002755.3(MAP2K1):c.503A>G (p.Lys168Arg) rs886051366
NM_002755.3(MAP2K1):c.961C>T (p.Pro321Ser)
NM_002834.4(PTPN11):c.*1015C>G rs538946251
NM_002834.4(PTPN11):c.*1035A>G rs886048970
NM_002834.4(PTPN11):c.*1157_*1159ATG[13] rs80269561
NM_002834.4(PTPN11):c.*1157_*1159ATG[16] rs80269561
NM_002834.4(PTPN11):c.*1157_*1159ATG[17] rs80269561
NM_002834.4(PTPN11):c.*1332G>A rs886048973
NM_002834.4(PTPN11):c.*1536T>C rs371375321
NM_002834.4(PTPN11):c.*1536T>G rs371375321
NM_002834.4(PTPN11):c.*1588C>G rs886048974
NM_002834.4(PTPN11):c.*1729A>G rs886048975
NM_002834.4(PTPN11):c.*1805C>T rs188162577
NM_002834.4(PTPN11):c.*1806G>A rs766598691
NM_002834.4(PTPN11):c.*1946G>A rs886048976
NM_002834.4(PTPN11):c.*2493C>T rs886048977
NM_002834.4(PTPN11):c.*2540G>T rs886048978
NM_002834.4(PTPN11):c.*2731G>A rs768622106
NM_002834.4(PTPN11):c.*2907A>C rs886048979
NM_002834.4(PTPN11):c.*2928A>T rs565075386
NM_002834.4(PTPN11):c.*3006G>A rs141870860
NM_002834.4(PTPN11):c.*3043C>T rs41307084
NM_002834.4(PTPN11):c.*3231T>G rs769489372
NM_002834.4(PTPN11):c.*3244A>G rs763237386
NM_002834.4(PTPN11):c.*325G>A rs192080780
NM_002834.4(PTPN11):c.*329T>C rs576039073
NM_002834.4(PTPN11):c.*3300T>C rs886048980
NM_002834.4(PTPN11):c.*3381A>G rs374962107
NM_002834.4(PTPN11):c.*3720T>C rs886048981
NM_002834.4(PTPN11):c.*4019C>T rs886048982
NM_002834.4(PTPN11):c.*41_*46del rs886048967
NM_002834.4(PTPN11):c.*50C>T rs730880328
NM_002834.4(PTPN11):c.*656del rs886048968
NM_002834.4(PTPN11):c.*687C>T rs748512308
NM_002834.4(PTPN11):c.*740C>T rs886048969
NM_002834.4(PTPN11):c.*775G>A rs181946923
NM_002834.4(PTPN11):c.*838G>A rs142648640
NM_002834.4(PTPN11):c.-139G>A rs886048964
NM_002834.4(PTPN11):c.-179G>C rs545369072
NM_002834.4(PTPN11):c.-245C>G rs886048963
NM_002834.4(PTPN11):c.1048T>G (p.Ser350Ala) rs146571700
NM_002834.4(PTPN11):c.1277A>C (p.His426Pro) rs727505389
NM_002834.4(PTPN11):c.1380-14C>G rs193922657
NM_002834.4(PTPN11):c.14+8G>T rs886048965
NM_002834.4(PTPN11):c.1449T>G (p.Gly483=) rs143238917
NM_002834.4(PTPN11):c.1579C>T (p.Arg527Cys) rs191525506
NM_002834.4(PTPN11):c.1599+4C>A rs142606486
NM_002834.4(PTPN11):c.1650G>A (p.Ala550=) rs374896287
NM_002834.4(PTPN11):c.1658C>T (p.Thr553Met) rs148176616
NM_002834.4(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797
NM_002834.4(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214
NM_002834.4(PTPN11):c.392A>G (p.Lys131Arg) rs397516805
NM_002834.4(PTPN11):c.473G>C (p.Gly158Ala) rs1555267825
NM_002834.4(PTPN11):c.48A>G (p.Ala16=) rs372736227
NM_002834.4(PTPN11):c.53A>G (p.Asn18Ser) rs587778635
NM_002834.4(PTPN11):c.556C>T (p.Arg186Trp) rs143433437
NM_002834.4(PTPN11):c.853+8T>C rs886048966
NM_002834.4(PTPN11):c.951G>A (p.Lys317=) rs576405446
NM_002880.3(RAF1):c.*113T>G rs886057914
NM_002880.3(RAF1):c.*162T>C rs886057913
NM_002880.3(RAF1):c.*190G>A rs528863135
NM_002880.3(RAF1):c.*495C>T rs12808
NM_002880.3(RAF1):c.*556G>A rs187286358
NM_002880.3(RAF1):c.*606A>G rs556460176
NM_002880.3(RAF1):c.*627C>T rs879160471
NM_002880.3(RAF1):c.*640T>C rs759464247
NM_002880.3(RAF1):c.*745_*748delAACA rs371820097
NM_002880.3(RAF1):c.*745_*748dupAACA rs371820097
NM_002880.3(RAF1):c.-110G>A rs886057917
NM_002880.3(RAF1):c.-139T>G rs886057918
NM_002880.3(RAF1):c.-146C>G rs886057919
NM_002880.3(RAF1):c.-181T>C rs886057920
NM_002880.3(RAF1):c.-204G>C rs547543588
NM_002880.3(RAF1):c.-267G>A rs116247741
NM_002880.3(RAF1):c.-27+7G>A rs886057916
NM_002880.3(RAF1):c.-339_-338AG[1] rs527774250
NM_002880.3(RAF1):c.119G>A (p.Arg40His) rs192632236
NM_002880.3(RAF1):c.125C>T (p.Ala42Val) rs11549992
NM_002880.3(RAF1):c.1467G>C (p.Leu489Phe) rs1553610155
NM_002880.3(RAF1):c.1721A>G (p.Tyr574Cys) rs370242565
NM_002880.3(RAF1):c.1814C>T (p.Ser605Phe) rs730881004
NM_002880.3(RAF1):c.1830A>G (p.Gln610=) rs141791080
NM_002880.3(RAF1):c.21T>C (p.Ala7=) rs886057915
NM_002880.3(RAF1):c.601A>G (p.Ile201Val) rs757700986
NM_002880.3(RAF1):c.680+6T>C rs371846795
NM_002880.3(RAF1):c.909A>C (p.Thr303=) rs5746219
NM_004333.4(BRAF):c.2128-16_2128-15delCT rs886062015
NM_004333.5(BRAF):c.2128-28dup rs60814637
NM_004333.6(BRAF):c.*3C>T rs746680490
NM_004333.6(BRAF):c.*7T>C rs727502903
NM_004333.6(BRAF):c.1166G>A (p.Arg389His) rs577372072
NM_004333.6(BRAF):c.1205C>G (p.Pro402Arg)
NM_004333.6(BRAF):c.1237G>A (p.Val413Met) rs377093637
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1796C>T (p.Thr599Ile) rs121913375
NM_004333.6(BRAF):c.1940A>G (p.Tyr647Cys) rs1562939198
NM_004333.6(BRAF):c.2128-15dup rs373442098
NM_004333.6(BRAF):c.2128-27_2128-16delinsTCT rs886062016
NM_004333.6(BRAF):c.2128-4del rs886062014
NM_004333.6(BRAF):c.437G>A (p.Arg146Gln) rs557241012
NM_004333.6(BRAF):c.793G>C (p.Gly265Arg) rs397516905
NM_004333.6(BRAF):c.981-14C>A rs200002171
NM_004409.5(DMPK):c.161-189T>C rs752437441
NM_004985.5(KRAS):c.*1205C>T rs574966178
NM_004985.5(KRAS):c.*1501G>A rs886049194
NM_004985.5(KRAS):c.*1631A>G rs763217196
NM_004985.5(KRAS):c.*1656A>G rs886049193
NM_004985.5(KRAS):c.*1705C>G rs539213224
NM_004985.5(KRAS):c.*1710G>A rs531344668
NM_004985.5(KRAS):c.*176C>T rs886049197
NM_004985.5(KRAS):c.*1772A>G rs886049192
NM_004985.5(KRAS):c.*1846del rs886049191
NM_004985.5(KRAS):c.*1891T>C rs886049190
NM_004985.5(KRAS):c.*193C>T rs150334904
NM_004985.5(KRAS):c.*2239A>G rs886049189
NM_004985.5(KRAS):c.*2270_*2271insC rs886049188
NM_004985.5(KRAS):c.*2325G>A rs886049187
NM_004985.5(KRAS):c.*2456G>A rs886049186
NM_004985.5(KRAS):c.*2484G>A rs779071703
NM_004985.5(KRAS):c.*2694C>T rs886049185
NM_004985.5(KRAS):c.*2971_*2974del rs886049184
NM_004985.5(KRAS):c.*3148C>T rs886049183
NM_004985.5(KRAS):c.*3202T>C rs886049182
NM_004985.5(KRAS):c.*3454T>C rs749403585
NM_004985.5(KRAS):c.*3499C>T rs886049181
NM_004985.5(KRAS):c.*3551C>G rs188922523
NM_004985.5(KRAS):c.*3645A>G rs529959450
NM_004985.5(KRAS):c.*3682_*3683dup rs142323886
NM_004985.5(KRAS):c.*370C>G rs886049196
NM_004985.5(KRAS):c.*3754_*3757del rs886049180
NM_004985.5(KRAS):c.*3915A>G rs886049179
NM_004985.5(KRAS):c.*4066del rs34719539
NM_004985.5(KRAS):c.*4074G>A rs886049177
NM_004985.5(KRAS):c.*4428G>C rs545014897
NM_004985.5(KRAS):c.*4483G>A rs577486152
NM_004985.5(KRAS):c.*4498T>C rs768891600
NM_004985.5(KRAS):c.*4522G>A rs886049176
NM_004985.5(KRAS):c.*538del rs756307694
NM_004985.5(KRAS):c.*550C>T rs566222739
NM_004985.5(KRAS):c.*59A>G rs886049198
NM_004985.5(KRAS):c.*765A>G rs886049195
NM_004985.5(KRAS):c.*865T>C rs559143985
NM_004985.5(KRAS):c.-128C>G rs886049199
NM_004985.5(KRAS):c.-160A>G rs727503111
NM_004985.5(KRAS):c.-176_-174CGG[4] rs886049200
NM_004985.5(KRAS):c.-180G>A rs886049201
NM_004985.5(KRAS):c.112-5C>T rs376520586
NM_004985.5(KRAS):c.198A>G (p.Ala66=) rs200229810
NM_004985.5(KRAS):c.264A>G (p.Lys88=) rs370920665
NM_004985.5(KRAS):c.389C>T (p.Ala130Val) rs730880473
NM_004985.5(KRAS):c.462T>C (p.Asp154=) rs779184057
NM_005188.3(CBL):c.2519G>C (p.Cys840Ser) rs376536789
NM_005633.3(SOS1):c.*1094_*1097delTTTG rs886056016
NM_005633.3(SOS1):c.*1224A>G rs886056015
NM_005633.3(SOS1):c.*1303C>A rs115153488
NM_005633.3(SOS1):c.*1309A>G rs145273962
NM_005633.3(SOS1):c.*1385A>G rs868000333
NM_005633.3(SOS1):c.*1516G>A rs550823381
NM_005633.3(SOS1):c.*1552T>A rs139679723
NM_005633.3(SOS1):c.*1589T>G rs886056014
NM_005633.3(SOS1):c.*1678C>A rs886056013
NM_005633.3(SOS1):c.*1684G>C rs886056012
NM_005633.3(SOS1):c.*1694delT rs767903412
NM_005633.3(SOS1):c.*2048_*2050dupAAC rs761591990
NM_005633.3(SOS1):c.*2063_*2066dupACAG rs886056011
NM_005633.3(SOS1):c.*2208dupC rs886056010
NM_005633.3(SOS1):c.*2218T>A rs886056009
NM_005633.3(SOS1):c.*223C>T rs886056022
NM_005633.3(SOS1):c.*2497G>A rs886056008
NM_005633.3(SOS1):c.*2503_*2506dupAAAT rs886056007
NM_005633.3(SOS1):c.*2983C>T rs190454003
NM_005633.3(SOS1):c.*298C>G rs886056021
NM_005633.3(SOS1):c.*3189_*3192delTGTT rs572584074
NM_005633.3(SOS1):c.*3416_*3417delTC rs200892895
NM_005633.3(SOS1):c.*3451A>T rs78411167
NM_005633.3(SOS1):c.*3463A>G rs886056006
NM_005633.3(SOS1):c.*3566_*3568delGTT rs886056005
NM_005633.3(SOS1):c.*3725T>C rs72799430
NM_005633.3(SOS1):c.*3727G>C rs886056004
NM_005633.3(SOS1):c.*4023T>C rs1043800
NM_005633.3(SOS1):c.*4110C>A rs886056003
NM_005633.3(SOS1):c.*4221C>T rs565544523
NM_005633.3(SOS1):c.*4265A>G rs377303107
NM_005633.3(SOS1):c.*4C>T rs188849286
NM_005633.3(SOS1):c.*534C>T rs773935049
NM_005633.3(SOS1):c.*544C>T rs886056020
NM_005633.3(SOS1):c.*642T>C rs886056019
NM_005633.3(SOS1):c.*696G>A rs886056018
NM_005633.3(SOS1):c.*758A>T rs182650589
NM_005633.3(SOS1):c.*766delA rs533720751
NM_005633.3(SOS1):c.*855G>A rs886056017
NM_005633.3(SOS1):c.*909G>A rs147219108
NM_005633.3(SOS1):c.1098T>A (p.Asp366Glu) rs730881040
NM_005633.3(SOS1):c.1490G>A (p.Arg497Gln) rs371314838
NM_005633.3(SOS1):c.1564A>C (p.Asn522His) rs761094509
NM_005633.3(SOS1):c.1574T>C (p.Ile525Thr) rs146722878
NM_005633.3(SOS1):c.1659G>A (p.Met553Ile) rs886056025
NM_005633.3(SOS1):c.1720G>A (p.Val574Ile) rs727504641
NM_005633.3(SOS1):c.1989A>C (p.Ile663=) rs587781172
NM_005633.3(SOS1):c.2121T>C (p.Asp707=) rs571408451
NM_005633.3(SOS1):c.2316G>C (p.Glu772Asp) rs1176763588
NM_005633.3(SOS1):c.2673+14T>C rs183998234
NM_005633.3(SOS1):c.2789T>C (p.Phe930Ser) rs886056024
NM_005633.3(SOS1):c.3032A>G (p.Asn1011Ser) rs8192671
NM_005633.3(SOS1):c.3068C>G (p.Pro1023Arg)
NM_005633.3(SOS1):c.3290G>C (p.Ser1097Thr) rs727505379
NM_005633.3(SOS1):c.3347-3C>T rs779326746
NM_005633.3(SOS1):c.3391+7A>G rs201982464
NM_005633.3(SOS1):c.3392G>A (p.Arg1131Lys)
NM_005633.3(SOS1):c.3418T>A (p.Leu1140Ile) rs375550588
NM_005633.3(SOS1):c.3433G>A (p.Asp1145Asn) rs727505383
NM_005633.3(SOS1):c.3624T>C (p.Pro1208=) rs763107563
NM_005633.3(SOS1):c.3709C>G (p.Pro1237Ala) rs371408734
NM_005633.3(SOS1):c.3793T>G (p.Ser1265Ala) rs886056023
NM_005633.3(SOS1):c.487A>G (p.Lys163Glu) rs886042206
NM_005633.3(SOS1):c.553A>G (p.Ile185Val) rs143962515
NM_005633.3(SOS1):c.570C>T (p.Asp190=) rs55980502
NM_005633.3(SOS1):c.587C>T (p.Ser196Leu) rs199898869
NM_005633.3(SOS1):c.5A>T (p.Gln2Leu) rs886056026
NM_005633.3(SOS1):c.865-4T>C rs750788947
NM_005633.3(SOS1):c.899G>A (p.Arg300Gln) rs754374236
NM_005633.3(SOS1):c.929G>A (p.Arg310His) rs143481916
NM_005633.3(SOS1):c.979A>G (p.Ile327Val) rs758546951
NM_006049.4(SNAPC5):c.22-143C>T rs886051367
NM_006049.4(SNAPC5):c.22-47_22-46del rs745540522
NM_006049.4(SNAPC5):c.22-512C>A rs886051368
NM_006049.4(SNAPC5):c.22-513C>A rs886051369
NM_006049.4(SNAPC5):c.22-678A>G rs770655370
NM_006049.4(SNAPC5):c.22-788T>C rs138560168
NM_006049.4(SNAPC5):c.22-795A>G rs548081932
NM_006049.4(SNAPC5):c.22-806del rs886051370
NM_006049.4(SNAPC5):c.22-815dup rs886051370
NM_006270.5(RRAS):c.145T>C (p.Phe49Leu) rs151014532
NM_006270.5(RRAS):c.158A>T (p.Tyr53Phe)
NM_006270.5(RRAS):c.167C>G (p.Ser56Cys)
NM_006270.5(RRAS):c.175G>C (p.Asp59His)
NM_006270.5(RRAS):c.338G>A (p.Arg113Gln)
NM_006270.5(RRAS):c.371C>T (p.Thr124Met) rs369508242
NM_006270.5(RRAS):c.400G>A (p.Asp134Asn)
NM_006270.5(RRAS):c.409G>A (p.Val137Ile) rs757080959
NM_006270.5(RRAS):c.427A>T (p.Lys143Ter)
NM_006270.5(RRAS):c.454-6C>T rs1568436933
NM_006270.5(RRAS):c.457C>A (p.Pro153Thr)
NM_006270.5(RRAS):c.472_473insTT (p.Ser158fs)
NM_006270.5(RRAS):c.49G>T (p.Gly17Trp)
NM_006270.5(RRAS):c.515C>T (p.Ser172Leu) rs754342165
NM_006270.5(RRAS):c.572G>A (p.Arg191Gln)
NM_006270.5(RRAS):c.623A>G (p.Lys208Arg) rs1568436746
NM_006270.5(RRAS):c.631G>A (p.Gly211Arg)
NM_006270.5(RRAS):c.649C>G (p.Leu217Val)
NM_006270.5(RRAS):c.64G>T (p.Gly22Trp) rs754976061
NM_006270.5(RRAS):c.74C>T (p.Pro25Leu)
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys) rs747430075
NM_006767.4(LZTR1):c.1382C>A (p.Ala461Asp) rs1569156890
NM_006767.4(LZTR1):c.1385T>C (p.Ile462Thr) rs147684991
NM_006767.4(LZTR1):c.1739T>C (p.Leu580Pro) rs1555928697
NM_006767.4(LZTR1):c.1943-256C>T rs761685529
NM_006767.4(LZTR1):c.1982G>A (p.Gly661Glu) rs750582696
NM_006767.4(LZTR1):c.2246A>G (p.Tyr749Cys) rs755260815
NM_006767.4(LZTR1):c.2462T>C (p.Ile821Thr)
NM_006767.4(LZTR1):c.271A>G (p.Met91Val) rs1135401945
NM_006912.6(RIT1):c.112A>G (p.Thr38Ala) rs1557962699
NM_006912.6(RIT1):c.13A>T (p.Thr5Ser)
NM_006912.6(RIT1):c.153T>G (p.Asp51Glu)
NM_006912.6(RIT1):c.233G>A (p.Gly78Glu) rs1557960268
NM_006912.6(RIT1):c.244T>A (p.Phe82Ile) rs869025194
NM_006912.6(RIT1):c.334C>T (p.Arg112Cys) rs375724784
NM_006912.6(RIT1):c.461G>A (p.Arg154Gln)
NM_006912.6(RIT1):c.640_643AAGA[1] (p.Lys215fs) rs766063111
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln) rs869312687
NM_006939.4(SOS2):c.1146A>G (p.Gln382=) rs1178247373
NM_006939.4(SOS2):c.1429C>T (p.Arg477Trp) rs1555370121
NM_006939.4(SOS2):c.1861T>G (p.Phe621Val) rs1555370029
NM_006939.4(SOS2):c.1868G>A (p.Arg623His) rs138459515
NM_006939.4(SOS2):c.2120A>G (p.Glu707Gly) rs369462490
NM_006939.4(SOS2):c.2128G>C (p.Glu710Gln) rs768829374
NM_006939.4(SOS2):c.2161+10A>G rs201629454
NM_006939.4(SOS2):c.2168C>T (p.Ala723Val) rs1566827698
NM_006939.4(SOS2):c.2221G>A (p.Ala741Thr)
NM_006939.4(SOS2):c.2246A>G (p.Asn749Ser) rs761689009
NM_006939.4(SOS2):c.2261G>A (p.Ser754Asn)
NM_006939.4(SOS2):c.2304G>T (p.Gln768His)
NM_006939.4(SOS2):c.2366T>C (p.Leu789Ser)
NM_006939.4(SOS2):c.2384+5A>G rs376903120
NM_006939.4(SOS2):c.2396C>T (p.Pro799Leu)
NM_006939.4(SOS2):c.2443A>G (p.Asn815Asp) rs886041958
NM_006939.4(SOS2):c.257C>T (p.Ala86Val)
NM_006939.4(SOS2):c.2600A>G (p.Asn867Ser) rs561495878
NM_006939.4(SOS2):c.2602G>A (p.Gly868Ser) rs751419448
NM_006939.4(SOS2):c.2605G>A (p.Val869Ile)
NM_006939.4(SOS2):c.2606T>C (p.Val869Ala)
NM_006939.4(SOS2):c.2758A>G (p.Ile920Val)
NM_006939.4(SOS2):c.290G>A (p.Arg97Gln)
NM_006939.4(SOS2):c.2957G>A (p.Arg986Lys) rs772746106
NM_006939.4(SOS2):c.2969A>G (p.Glu990Gly)
NM_006939.4(SOS2):c.2983A>G (p.Met995Val)
NM_006939.4(SOS2):c.3235A>G (p.Thr1079Ala) rs61755576
NM_006939.4(SOS2):c.3266C>A (p.Pro1089Gln)
NM_006939.4(SOS2):c.3275C>T (p.Pro1092Leu)
NM_006939.4(SOS2):c.3338-4A>G rs777684425
NM_006939.4(SOS2):c.3383C>G (p.Ser1128Cys) rs1566815476
NM_006939.4(SOS2):c.3403A>G (p.Ser1135Gly)
NM_006939.4(SOS2):c.3503C>A (p.Ser1168Tyr) rs143166880
NM_006939.4(SOS2):c.3560C>T (p.Pro1187Leu)
NM_006939.4(SOS2):c.3584C>T (p.Ala1195Val) rs753151750
NM_006939.4(SOS2):c.3761C>G (p.Thr1254Arg) rs772587016
NM_006939.4(SOS2):c.3769A>G (p.Asn1257Asp) rs150393358
NM_006939.4(SOS2):c.3781A>C (p.Thr1261Pro) rs1555367637
NM_006939.4(SOS2):c.432G>A (p.Leu144=)
NM_006939.4(SOS2):c.496A>G (p.Met166Val) rs1555322175
NM_006939.4(SOS2):c.533A>C (p.Gln178Pro) rs1273376869
NM_006939.4(SOS2):c.622G>T (p.Ala208Ser) rs61755579
NM_006939.4(SOS2):c.674G>A (p.Arg225Gln) rs780580623
NM_006939.4(SOS2):c.714T>G (p.Ser238=)
NM_006939.4(SOS2):c.721G>A (p.Glu241Lys)
NM_006939.4(SOS2):c.780G>T (p.Leu260Phe) rs1348457314
NM_006939.4(SOS2):c.839G>C (p.Cys280Ser)
NM_030662.3(MAP2K2):c.1109A>G
NM_030662.3(MAP2K2):c.1162C>T (p.Arg388Trp) rs144383241
NM_030662.3(MAP2K2):c.26T>C (p.Leu9Pro)
NM_030662.3(MAP2K2):c.844C>T (p.Pro282Ser) rs142307980
NM_144670.6(A2ML1):c.1417G>T (p.Asp473Tyr) rs201950472
NM_144670.6(A2ML1):c.3397A>C (p.Asn1133His) rs1466413438

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