ClinVar Miner

List of variants studied for Noonan syndrome with multiple lentigines

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 394
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HGVS dbSNP gnomAD frequency
NM_004333.6(BRAF):c.1929A>G (p.Gly643=) rs9648696 0.30796
NM_002834.3(PTPN11):c.-273G>A rs58805176 0.10884
NM_002834.5(PTPN11):c.*1006del rs146940557 0.05739
NM_002834.5(PTPN11):c.1093-9C>A rs12301915 0.04151
NM_002834.5(PTPN11):c.255C>T (p.His85=) rs61736914 0.02271
NM_002880.4(RAF1):c.1755A>G (p.Val585=) rs3730296 0.02125
NM_002834.5(PTPN11):c.*670G>A rs112287134 0.01588
NM_002880.4(RAF1):c.*348T>C rs5746247 0.01554
NM_002834.5(PTPN11):c.*801C>T rs138246203 0.01271
NM_002880.3(RAF1):c.-415-1C>G rs61730434 0.01127
NM_004333.6(BRAF):c.-19C>T rs71645935 0.01115
NM_002880.4(RAF1):c.-281C>G rs61761285 0.01090
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084 0.01088
NM_002834.5(PTPN11):c.525+12G>C rs41304351 0.01035
NM_004333.6(BRAF):c.*387G>A rs114105685 0.00981
NM_004333.6(BRAF):c.1315-18T>G rs6959000 0.00840
NM_002834.5(PTPN11):c.*1374G>C rs139266170 0.00836
NM_002834.5(PTPN11):c.*2927T>A rs190612693 0.00828
NM_002880.4(RAF1):c.1669-13T>C rs147475396 0.00819
NM_002880.4(RAF1):c.1941C>T (p.Val647=) rs3730297 0.00729
NM_002834.5(PTPN11):c.*3043C>T rs41307084 0.00647
NM_002834.5(PTPN11):c.*3006G>A rs141870860 0.00646
NM_002880.4(RAF1):c.923C>T (p.Pro308Leu) rs5746220 0.00571
NM_004333.6(BRAF):c.1383A>G (p.Gln461=) rs56216404 0.00399
NM_004333.6(BRAF):c.1141-19C>T rs71645959 0.00360
NM_002880.4(RAF1):c.*495C>T rs12808 0.00354
NM_002880.4(RAF1):c.*190G>A rs528863135 0.00335
NM_004333.6(BRAF):c.1227A>G (p.Ser409=) rs145035762 0.00318
NM_002834.5(PTPN11):c.*325G>A rs192080780 0.00304
NM_002880.4(RAF1):c.*160C>T rs5746246 0.00295
NM_002834.5(PTPN11):c.*775G>A rs181946923 0.00230
NM_002834.5(PTPN11):c.*2078G>A rs144513512 0.00193
NM_002880.4(RAF1):c.*110T>C rs550188508 0.00112
NM_002834.5(PTPN11):c.526-17T>C rs375184329 0.00096
NM_002880.4(RAF1):c.1830A>G (p.Gln610=) rs141791080 0.00088
NM_002880.4(RAF1):c.581+4A>G rs201776526 0.00087
NM_002880.4(RAF1):c.-201C>A rs532668125 0.00073
NM_004333.6(BRAF):c.1332G>A (p.Arg444=) rs56101602 0.00068
NM_004333.6(BRAF):c.981-20C>T rs374896031 0.00066
NM_002834.5(PTPN11):c.-77G>A rs766412799 0.00064
NM_002834.5(PTPN11):c.526-8C>A rs184804143 0.00064
NM_002834.5(PTPN11):c.*799G>A rs745319452 0.00062
NM_002834.5(PTPN11):c.*4019C>T rs886048982 0.00051
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616 0.00048
NM_002834.5(PTPN11):c.1379+20C>T rs184743462 0.00047
NM_002834.5(PTPN11):c.*3971A>G rs572565511 0.00044
NM_004333.6(BRAF):c.2127+3A>G rs371976102 0.00043
NM_002834.5(PTPN11):c.*2150G>T rs756441720 0.00039
NM_002834.5(PTPN11):c.*838G>A rs142648640 0.00035
NM_002880.4(RAF1):c.-209G>A rs727504351 0.00035
NM_002834.5(PTPN11):c.*1805C>T rs188162577 0.00033
NM_002880.4(RAF1):c.321-14T>A rs3730270 0.00032
NM_002834.5(PTPN11):c.643-6dup rs758889732 0.00030
NM_004333.6(BRAF):c.2235A>G (p.Leu745=) rs56046546 0.00030
NM_002834.5(PTPN11):c.48A>G (p.Ala16=) rs372736227 0.00029
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val) rs201787206 0.00026
NM_002880.4(RAF1):c.909A>C (p.Thr303=) rs5746219 0.00025
NM_004333.6(BRAF):c.64G>A (p.Asp22Asn) rs397507456 0.00025
NM_004333.6(BRAF):c.-5A>G rs71645936 0.00024
NM_002880.4(RAF1):c.-181T>C rs886057920 0.00022
NM_002880.4(RAF1):c.124G>A (p.Ala42Thr) rs200856000 0.00021
NM_002880.4(RAF1):c.125C>T (p.Ala42Val) rs11549992 0.00021
NM_002834.5(PTPN11):c.*687C>T rs748512308 0.00020
NM_004333.6(BRAF):c.*216T>C rs184804021 0.00020
NM_004333.6(BRAF):c.240+18A>G rs368584855 0.00017
NM_002834.5(PTPN11):c.*1806G>A rs766598691 0.00016
NM_002880.4(RAF1):c.119G>A (p.Arg40His) rs192632236 0.00016
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln) rs145611571 0.00016
NM_004333.6(BRAF):c.1860+16A>G rs368859030 0.00016
NM_002834.5(PTPN11):c.*720C>T rs770605810 0.00015
NM_002880.4(RAF1):c.*113T>G rs886057914 0.00015
NM_002880.4(RAF1):c.*556G>A rs187286358 0.00014
NM_002880.4(RAF1):c.680+6T>C rs371846795 0.00014
NM_002834.5(PTPN11):c.*2731G>A rs768622106 0.00013
NM_002834.5(PTPN11):c.1746C>T (p.Asn582=) rs397516800 0.00013
NM_002880.4(RAF1):c.*404G>A rs150460686 0.00013
NM_002834.5(PTPN11):c.*50C>T rs730880328 0.00012
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys) rs370242565 0.00012
NM_002834.5(PTPN11):c.1224+15G>A rs373271861 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_002834.3(PTPN11):c.-287G>C rs377496292 0.00009
NM_002834.5(PTPN11):c.*2493C>T rs886048977 0.00009
NM_002834.5(PTPN11):c.*2928A>T rs565075386 0.00009
NM_002834.5(PTPN11):c.*802G>A rs753900307 0.00009
NM_002834.5(PTPN11):c.1449T>G (p.Gly483=) rs143238917 0.00009
NM_002880.4(RAF1):c.*627C>T rs879160471 0.00009
NM_002880.4(RAF1):c.*630A>G rs975583754 0.00009
NM_002880.4(RAF1):c.834+598G>A rs375404697 0.00009
NM_004333.6(BRAF):c.1993-11T>C rs750297886 0.00009
NM_004333.6(BRAF):c.399A>G (p.Ser133=) rs397507463 0.00009
NM_002880.4(RAF1):c.-264C>G rs894363344 0.00008
NM_004333.6(BRAF):c.375T>G (p.Ser125=) rs201507202 0.00008
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797 0.00007
NM_004333.6(BRAF):c.1694+13C>T rs368578780 0.00007
NM_002834.5(PTPN11):c.*3231T>G rs769489372 0.00006
NM_002834.5(PTPN11):c.*64C>G rs763895470 0.00006
NM_002834.5(PTPN11):c.*740C>T rs886048969 0.00006
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214 0.00006
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg) rs397516805 0.00006
NM_002834.5(PTPN11):c.616T>C (p.Leu206=) rs78376169 0.00006
NM_002880.4(RAF1):c.1814C>T (p.Ser605Phe) rs730881004 0.00006
NM_004333.6(BRAF):c.504+19C>T rs780617193 0.00006
NM_002880.4(RAF1):c.-53G>A rs985291322 0.00005
NM_004333.6(BRAF):c.1024A>G (p.Ile342Val) rs201481342 0.00005
NM_004333.6(BRAF):c.2196C>G (p.Ser732=) rs142592480 0.00005
NM_004333.6(BRAF):c.72G>C (p.Glu24Asp) rs587778114 0.00005
NM_002834.5(PTPN11):c.14+11C>A rs1486505121 0.00004
NM_002834.5(PTPN11):c.893A>G (p.Asn298Ser) rs572274623 0.00004
NM_002880.3(RAF1):c.-354C>G rs964288487 0.00004
NM_002880.4(RAF1):c.*643C>G rs932173134 0.00004
NM_002880.4(RAF1):c.435G>A (p.Thr145=) rs371565419 0.00004
NM_004333.6(BRAF):c.1180T>C (p.Ser394Pro) rs923739321 0.00004
NM_004333.6(BRAF):c.915G>A (p.Ala305=) rs145675911 0.00004
NM_002834.5(PTPN11):c.*3381A>G rs374962107 0.00003
NM_002834.5(PTPN11):c.*3720T>C rs886048981 0.00003
NM_002834.5(PTPN11):c.1327C>T (p.His443Tyr) rs779236638 0.00003
NM_002834.5(PTPN11):c.1379+6A>G rs746958309 0.00003
NM_002834.5(PTPN11):c.781C>T (p.Leu261Phe) rs397507525 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_002834.5(PTPN11):c.824A>C (p.Asn275Thr) rs397507528 0.00003
NM_002880.4(RAF1):c.-110G>A rs886057917 0.00003
NM_002880.4(RAF1):c.600T>C (p.Thr200=) rs779808613 0.00003
NM_004333.6(BRAF):c.1068A>G (p.Gln356=) rs143335467 0.00003
NM_004333.6(BRAF):c.1314+17T>C rs1057524397 0.00003
NM_004333.6(BRAF):c.1694+14G>A rs184144181 0.00003
NM_004333.6(BRAF):c.2128-10_2128-9insC rs758588300 0.00003
NM_004333.6(BRAF):c.2136C>T (p.Ala712=) rs377165711 0.00003
NM_004333.6(BRAF):c.2140A>G (p.Ile714Val) rs555976452 0.00003
NM_004333.6(BRAF):c.708C>T (p.Asn236=) rs138333692 0.00003
NM_002834.3(PTPN11):c.-245C>G rs886048963 0.00002
NM_002834.5(PTPN11):c.*1588C>G rs886048974 0.00002
NM_002834.5(PTPN11):c.*1616C>T rs1340461859 0.00002
NM_002834.5(PTPN11):c.*1830G>A rs1399608679 0.00002
NM_002834.5(PTPN11):c.*2608C>T rs1009588224 0.00002
NM_002834.5(PTPN11):c.1041A>G (p.Gln347=) rs766297596 0.00002
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala) rs201247699 0.00002
NM_002834.5(PTPN11):c.1594G>A (p.Glu532Lys) rs587778634 0.00002
NM_002834.5(PTPN11):c.327T>G (p.Ser109=) rs1039250039 0.00002
NM_002834.5(PTPN11):c.455G>A (p.Arg152His) rs397507521 0.00002
NM_002880.4(RAF1):c.*647G>T rs1457071879 0.00002
NM_002880.4(RAF1):c.*706C>T rs1466261579 0.00002
NM_002880.4(RAF1):c.1113T>C (p.Asp371=) rs146668293 0.00002
NM_002880.4(RAF1):c.934G>A (p.Val312Met) rs555034652 0.00002
NM_004333.6(BRAF):c.*7T>C rs727502903 0.00002
NM_004333.6(BRAF):c.1023A>G (p.Pro341=) rs56092510 0.00002
NM_004333.6(BRAF):c.1433-18G>A rs763267814 0.00002
NM_002834.5(PTPN11):c.*1038G>A rs931986581 0.00001
NM_002834.5(PTPN11):c.*1332G>A rs886048973 0.00001
NM_002834.5(PTPN11):c.*1419G>A rs1435419771 0.00001
NM_002834.5(PTPN11):c.*1520C>T rs953487891 0.00001
NM_002834.5(PTPN11):c.*2096T>G rs547373116 0.00001
NM_002834.5(PTPN11):c.*2179C>T rs1269783582 0.00001
NM_002834.5(PTPN11):c.*2540G>T rs886048978 0.00001
NM_002834.5(PTPN11):c.*2907A>C rs886048979 0.00001
NM_002834.5(PTPN11):c.*329T>C rs576039073 0.00001
NM_002834.5(PTPN11):c.*3300T>C rs886048980 0.00001
NM_002834.5(PTPN11):c.*474A>G rs1198836111 0.00001
NM_002834.5(PTPN11):c.*682T>C rs1223950825 0.00001
NM_002834.5(PTPN11):c.-71C>T rs1463949594 0.00001
NM_002834.5(PTPN11):c.1011G>A (p.Thr337=) rs371951288 0.00001
NM_002834.5(PTPN11):c.1047C>T (p.Asn349=) rs1222504763 0.00001
NM_002834.5(PTPN11):c.1048T>G (p.Ser350Ala) rs146571700 0.00001
NM_002834.5(PTPN11):c.1124A>G (p.Tyr375Cys) rs41299183 0.00001
NM_002834.5(PTPN11):c.1131A>C (p.Leu377=) rs370059077 0.00001
NM_002834.5(PTPN11):c.115G>A (p.Gly39Arg) rs886041585 0.00001
NM_002834.5(PTPN11):c.1233G>A (p.Thr411=) rs1325353647 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541 0.00001
NM_002834.5(PTPN11):c.1508G>A (p.Gly503Glu) rs397507546 0.00001
NM_002834.5(PTPN11):c.1579C>T (p.Arg527Cys) rs191525506 0.00001
NM_002834.5(PTPN11):c.1650G>A (p.Ala550=) rs374896287 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002834.5(PTPN11):c.244A>G (p.Met82Val) rs397507515 0.00001
NM_002834.5(PTPN11):c.289G>C (p.Glu97Gln) rs397507516 0.00001
NM_002834.5(PTPN11):c.563A>G (p.Asp188Gly) rs1436513335 0.00001
NM_002834.5(PTPN11):c.642G>A (p.Gln214=) rs876661383 0.00001
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) rs397507529 0.00001
NM_002834.5(PTPN11):c.874C>T (p.Leu292=) rs930267460 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_002834.5(PTPN11):c.931A>G (p.Met311Val) rs774939392 0.00001
NM_002834.5(PTPN11):c.951G>A (p.Lys317=) rs576405446 0.00001
NM_002834.5(PTPN11):c.957C>T (p.Asn319=) rs771407775 0.00001
NM_002880.4(RAF1):c.*410A>G rs1055682241 0.00001
NM_002880.4(RAF1):c.*73T>A rs932588742 0.00001
NM_002880.4(RAF1):c.-27+7G>A rs886057916 0.00001
NM_002880.4(RAF1):c.1141G>A (p.Asp381Asn) rs559632360 0.00001
NM_002880.4(RAF1):c.1914G>A (p.Thr638=) rs144876026 0.00001
NM_002880.4(RAF1):c.31A>T (p.Ile11Phe) rs779001930 0.00001
NM_002880.4(RAF1):c.462C>G (p.Ile154Met) rs367732360 0.00001
NM_002880.4(RAF1):c.482A>G (p.Asn161Ser) rs775781057 0.00001
NM_002880.4(RAF1):c.601A>G (p.Ile201Val) rs757700986 0.00001
NM_002880.4(RAF1):c.61G>A (p.Val21Met) rs752484962 0.00001
NM_002880.4(RAF1):c.654A>G (p.Arg218=) rs898490426 0.00001
NM_002880.4(RAF1):c.933C>T (p.Pro311=) rs1553613022 0.00001
NM_004333.6(BRAF):c.*124G>C rs1317771158 0.00001
NM_004333.6(BRAF):c.*3C>T rs746680490 0.00001
NM_004333.6(BRAF):c.-12C>T rs1390547132 0.00001
NM_004333.6(BRAF):c.-56C>T rs867823794 0.00001
NM_004333.6(BRAF):c.1061G>A (p.Arg354Gln) rs1158980679 0.00001
NM_004333.6(BRAF):c.112G>C (p.Ala38Pro) rs1011563467 0.00001
NM_004333.6(BRAF):c.1166G>A (p.Arg389His) rs577372072 0.00001
NM_004333.6(BRAF):c.1237G>A (p.Val413Met) rs377093637 0.00001
NM_004333.6(BRAF):c.1338G>A (p.Ser446=) rs765215499 0.00001
NM_004333.6(BRAF):c.1848C>A (p.Ser616=) rs752115982 0.00001
NM_004333.6(BRAF):c.1992+15C>T rs766089848 0.00001
NM_004333.6(BRAF):c.26G>C (p.Gly9Ala) rs1211436028 0.00001
NM_004333.6(BRAF):c.298T>C (p.Leu100=) rs761709697 0.00001
NM_004333.6(BRAF):c.316G>A (p.Gly106Arg) rs749247588 0.00001
NM_004333.6(BRAF):c.437G>A (p.Arg146Gln) rs557241012 0.00001
NM_004333.6(BRAF):c.712-18T>C rs535496777 0.00001
NM_004333.6(BRAF):c.89G>A (p.Gly30Asp) rs1273585752 0.00001
NM_004333.6(BRAF):c.981-14C>A rs200002171 0.00001
NC_000003.12:g.12589035_12766981dup
NM_002834.3(PTPN11):c.-291G>A rs997562896
NM_002834.3(PTPN11):c.-317C>G rs373537430
NM_002834.4(PTPN11):c.-176G>T rs919391557
NM_002834.4(PTPN11):c.-179G>C rs545369072
NM_002834.5(PTPN11):c.*1015C>G rs538946251
NM_002834.5(PTPN11):c.*1035A>G rs886048970
NM_002834.5(PTPN11):c.*1157ATG[13] rs80269561
NM_002834.5(PTPN11):c.*1157ATG[14] rs80269561
NM_002834.5(PTPN11):c.*1157ATG[16] rs80269561
NM_002834.5(PTPN11):c.*1157ATG[17] rs80269561
NM_002834.5(PTPN11):c.*1536T>C rs371375321
NM_002834.5(PTPN11):c.*1536T>G rs371375321
NM_002834.5(PTPN11):c.*1729A>G rs886048975
NM_002834.5(PTPN11):c.*1946G>A rs886048976
NM_002834.5(PTPN11):c.*2629A>G rs141655134
NM_002834.5(PTPN11):c.*2822A>G rs1164863703
NM_002834.5(PTPN11):c.*3244A>G rs763237386
NM_002834.5(PTPN11):c.*41_*46del rs886048967
NM_002834.5(PTPN11):c.*656del rs886048968
NM_002834.5(PTPN11):c.*673G>A rs2038937189
NM_002834.5(PTPN11):c.*684G>A rs1566194466
NM_002834.5(PTPN11):c.-139G>A rs886048964
NM_002834.5(PTPN11):c.-151C>A rs889190246
NM_002834.5(PTPN11):c.-161T>A rs893158717
NM_002834.5(PTPN11):c.1144G>A (p.Val382Ile) rs1214510641
NM_002834.5(PTPN11):c.1221A>G (p.Gly407=) rs532529560
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala) rs397507501
NM_002834.5(PTPN11):c.1261C>T (p.Arg421Trp) rs1355732645
NM_002834.5(PTPN11):c.127C>G (p.Leu43Val) rs1566164987
NM_002834.5(PTPN11):c.127C>T (p.Leu43Phe) rs1566164987
NM_002834.5(PTPN11):c.1361C>T (p.Pro454Leu) rs1566185599
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr) rs121918468
NM_002834.5(PTPN11):c.1381G>T (p.Ala461Ser) rs121918468
NM_002834.5(PTPN11):c.1382C>G (p.Ala461Gly) rs397509344
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.5(PTPN11):c.14+8G>T rs886048965
NM_002834.5(PTPN11):c.1402A>C (p.Thr468Pro) rs397507537
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr) rs397507539
NM_002834.5(PTPN11):c.1472C>A (p.Pro491His) rs397507540
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu) rs397507540
NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu) rs397507542
NM_002834.5(PTPN11):c.1498C>G (p.Gln500Glu) rs2038714548
NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr) rs121918458
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro) rs397507548
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) rs121918470
NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg) rs121918470
NM_002834.5(PTPN11):c.1530G>C (p.Gln510His) rs397507550
NM_002834.5(PTPN11):c.1599+4C>A rs142606486
NM_002834.5(PTPN11):c.1678C>G (p.Leu560Val) rs397516797
NM_002834.5(PTPN11):c.1685C>T (p.Pro562Leu) rs2038884191
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.5(PTPN11):c.1739A>G (p.Tyr580Cys) rs2038914051
NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser) rs397507507
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val) rs397507509
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) rs397507510
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg) rs397516801
NM_002834.5(PTPN11):c.213T>A (p.Phe71Leu)
NM_002834.5(PTPN11):c.214G>C (p.Ala72Pro) rs121918453
NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser) rs121918453
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_002834.5(PTPN11):c.222G>A (p.Leu74=) rs1429492147
NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp) rs397507514
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.289G>A (p.Glu97Lys) rs397507516
NM_002834.5(PTPN11):c.329A>C (p.Glu110Ala) rs397507519
NM_002834.5(PTPN11):c.329A>G (p.Glu110Gly) rs397507519
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.473G>C (p.Gly158Ala) rs1555267825
NM_002834.5(PTPN11):c.519C>G (p.Arg173=) rs767425313
NM_002834.5(PTPN11):c.53A>G (p.Asn18Ser) rs587778635
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002834.5(PTPN11):c.612A>T (p.Glu204Asp)
NM_002834.5(PTPN11):c.643-6G>A rs780387568
NM_002834.5(PTPN11):c.663A>G (p.Ile221Met)
NM_002834.5(PTPN11):c.691C>T (p.Arg231Ter) rs2038154558
NM_002834.5(PTPN11):c.762ACA[2] (p.Gln257del) rs397507524
NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg) rs397507523
NM_002834.5(PTPN11):c.770A>G (p.Gln257Arg) rs2038442309
NM_002834.5(PTPN11):c.787T>A (p.Tyr263Asn)
NM_002834.5(PTPN11):c.788A>G (p.Tyr263Cys) rs763617831
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser) rs397507527
NM_002834.5(PTPN11):c.802G>T (p.Gly268Cys) rs397507527
NM_002834.5(PTPN11):c.836A>C (p.Tyr279Ser) rs121918456
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.853+8T>C rs886048966
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) rs397507531
NM_002834.5(PTPN11):c.853T>G (p.Phe285Val) rs397507531
NM_002834.5(PTPN11):c.865A>G (p.Arg289Gly) rs2135901005
NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr) rs121918455
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002834.5(PTPN11):c.92C>G (p.Ala31Gly) rs2037994433
NM_002880.3(RAF1):c.-340_-339GA[1] rs527774250
NM_002880.4(RAF1):c.*120C>A rs1575528605
NM_002880.4(RAF1):c.*162T>C rs886057913
NM_002880.4(RAF1):c.*266C>T rs1051208
NM_002880.4(RAF1):c.*606A>G rs556460176
NM_002880.4(RAF1):c.*628G>T rs374944110
NM_002880.4(RAF1):c.*640T>C rs759464247
NM_002880.4(RAF1):c.*729AACA[4] rs371820097
NM_002880.4(RAF1):c.*729AACA[6] rs371820097
NM_002880.4(RAF1):c.*83C>T rs2229757
NM_002880.4(RAF1):c.-107C>T rs1451879607
NM_002880.4(RAF1):c.-139T>G rs886057918
NM_002880.4(RAF1):c.-146C>G rs886057919
NM_002880.4(RAF1):c.-204G>C rs547543588
NM_002880.4(RAF1):c.-267G>A rs116247741
NM_002880.4(RAF1):c.-59C>G rs201603517
NM_002880.4(RAF1):c.1082G>C (p.Gly361Ala) rs397516813
NM_002880.4(RAF1):c.1193G>T (p.Arg398Leu) rs730880382
NM_002880.4(RAF1):c.1292A>C (p.Lys431Thr) rs747632183
NM_002880.4(RAF1):c.1456G>A (p.Asp486Asn) rs80338798
NM_002880.4(RAF1):c.1463G>A (p.Gly488Asp) rs865862568
NM_002880.4(RAF1):c.1472C>T (p.Thr491Ile) rs80338799
NM_002880.4(RAF1):c.161C>A (p.Thr54Lys) rs754798801
NM_002880.4(RAF1):c.1629G>C (p.Thr543=) rs5746244
NM_002880.4(RAF1):c.1770G>C (p.Lys590Asn) rs773583951
NM_002880.4(RAF1):c.1837C>G (p.Leu613Val) rs80338797
NM_002880.4(RAF1):c.1867C>T (p.Pro623Ser) rs373596121
NM_002880.4(RAF1):c.1922C>G (p.Thr641Arg) rs587777587
NM_002880.4(RAF1):c.21T>C (p.Ala7=) rs886057915
NM_002880.4(RAF1):c.226A>G (p.Met76Val) rs730880999
NM_002880.4(RAF1):c.231C>T (p.Ser77=) rs1450510914
NM_002880.4(RAF1):c.321-14dup rs202103447
NM_002880.4(RAF1):c.332G>A (p.Arg111His) rs996417348
NM_002880.4(RAF1):c.438C>A (p.Phe146Leu) rs794727717
NM_002880.4(RAF1):c.505G>C (p.Gly169Arg) rs886039607
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.4(RAF1):c.773C>G (p.Thr258Arg) rs1575573330
NM_002880.4(RAF1):c.776C>A (p.Ser259Tyr) rs397516827
NM_002880.4(RAF1):c.781C>G (p.Pro261Ala) rs121434594
NM_002880.4(RAF1):c.788T>A (p.Val263Asp) rs397516830
NM_002880.4(RAF1):c.843T>A (p.Ile281=) rs2058826353
NM_004333.6(BRAF):c.*111C>T rs539860876
NM_004333.6(BRAF):c.*143A>G rs1585929994
NM_004333.6(BRAF):c.*203A>G rs1796208696
NM_004333.6(BRAF):c.1056T>A (p.Asp352Glu) rs1398817791
NM_004333.6(BRAF):c.1066C>G (p.Gln356Glu) rs151308995
NM_004333.6(BRAF):c.1190G>A (p.Gly397Asp) rs1554400237
NM_004333.6(BRAF):c.1205C>A (p.Pro402His) rs199927105
NM_004333.6(BRAF):c.1206C>A (p.Pro402=) rs201758035
NM_004333.6(BRAF):c.124G>T (p.Ala42Ser) rs2129153151
NM_004333.6(BRAF):c.1432+17_1432+19del rs777363183
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) rs397507475
NM_004333.6(BRAF):c.1569A>G (p.Pro523=) rs759843625
NM_004333.6(BRAF):c.1719C>A (p.Ile573=) rs2128999629
NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys) rs397516895
NM_004333.6(BRAF):c.1897T>C (p.Tyr633His) rs746010267
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004333.6(BRAF):c.1940A>G (p.Tyr647Cys) rs1562939198
NM_004333.6(BRAF):c.1943A>G (p.Glu648Gly) rs1797600118
NM_004333.6(BRAF):c.1992+16G>C rs3789806
NM_004333.6(BRAF):c.2128-16_2128-15del rs886062015
NM_004333.6(BRAF):c.2128-27_2128-16delinsTCT rs886062016
NM_004333.6(BRAF):c.2128-27_2128-19del rs761539834
NM_004333.6(BRAF):c.2128-28dup rs60814637
NM_004333.6(BRAF):c.2128-4del rs886062014
NM_004333.6(BRAF):c.2128-5del rs373442098
NM_004333.6(BRAF):c.2128-5dup rs373442098
NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp) rs727502904
NM_004333.6(BRAF):c.260G>A (p.Ser87Asn) rs1033856250
NM_004333.6(BRAF):c.469G>A (p.Val157Ile) rs1258111302
NM_004333.6(BRAF):c.563G>C (p.Arg188Thr) rs1803936771
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.735A>T (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_004333.6(BRAF):c.940T>A (p.Ser314Thr)
NM_014160.5(MKRN2):c.*1420G>A rs1461713213
NM_014160.5(MKRN2):c.*1421T>A rs2058212896
NM_030662.4(MAP2K2):c.183A>T (p.Lys61Asn) rs886041310
NM_030662.4(MAP2K2):c.692G>T (p.Arg231Leu) rs730880511

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