ClinVar Miner

List of variants studied for Noonan syndrome 1

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 545
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HGVS dbSNP gnomAD frequency
NM_000751.3(CHRND):c.*885T>C rs1004175 0.34980
NM_000751.3(CHRND):c.*52A>G rs2767 0.34088
NM_005199.5(CHRNG):c.921-12C>T rs13018423 0.22363
NM_005199.5(CHRNG):c.507-13C>T rs2853462 0.20012
NM_005199.5(CHRNG):c.*568C>T rs72991939 0.18562
NM_005199.5(CHRNG):c.*496A>G rs72991937 0.18514
NM_005199.5(CHRNG):c.1422C>T (p.Arg474=) rs2099489 0.17611
NM_002834.5(PTPN11):c.-273G>A rs58805176 0.10884
NM_000751.3(CHRND):c.*424C>T rs4973046 0.06579
NM_002834.5(PTPN11):c.1093-9C>A rs12301915 0.04151
NM_000751.3(CHRND):c.*1025A>G rs115132742 0.02647
NM_005199.5(CHRNG):c.445G>A (p.Ala149Thr) rs2289080 0.02629
NM_002834.5(PTPN11):c.255C>T (p.His85=) rs61736914 0.02271
NM_005199.5(CHRNG):c.*77T>C rs11690038 0.02138
NM_002834.5(PTPN11):c.*670G>A rs112287134 0.01588
NM_000751.3(CHRND):c.*149A>G rs114315112 0.01306
NM_002834.5(PTPN11):c.*801C>T rs138246203 0.01271
NM_002834.5(PTPN11):c.525+12G>C rs41304351 0.01035
NM_005199.5(CHRNG):c.951C>A (p.Ile317=) rs75369104 0.00988
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_002834.5(PTPN11):c.*3043C>T rs41307084 0.00647
NM_002834.5(PTPN11):c.*3006G>A rs141870860 0.00646
NM_005199.5(CHRNG):c.1516C>T (p.Pro506Ser) rs71421651 0.00520
NM_004333.6(BRAF):c.1141-19C>T rs71645959 0.00360
NM_002834.5(PTPN11):c.*325G>A rs192080780 0.00304
NM_005199.5(CHRNG):c.195+14C>T rs200640510 0.00299
NM_005199.5(CHRNG):c.125G>A (p.Arg42Gln) rs148468628 0.00262
NM_005199.5(CHRNG):c.*351G>A rs111802317 0.00258
NM_002834.5(PTPN11):c.*775G>A rs181946923 0.00230
NM_002834.5(PTPN11):c.*2078G>A rs144513512 0.00193
NM_005199.5(CHRNG):c.1115C>T (p.Ser372Phe) rs145433186 0.00160
NM_000751.3(CHRND):c.*365C>A rs112940737 0.00145
NM_005199.5(CHRNG):c.471C>T (p.Phe157=) rs143272752 0.00120
NM_002834.5(PTPN11):c.526-17T>C rs375184329 0.00096
NM_005199.5(CHRNG):c.775G>A (p.Ala259Thr) rs138125827 0.00078
NM_005199.5(CHRNG):c.928A>T (p.Thr310Ser) rs145830034 0.00077
NM_002834.5(PTPN11):c.*4019C>T rs886048982 0.00068
NM_005199.5(CHRNG):c.663G>A (p.Ala221=) rs150556220 0.00068
NM_004333.6(BRAF):c.981-20C>T rs374896031 0.00066
NM_005199.5(CHRNG):c.*207T>C rs147814126 0.00065
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_005199.5(CHRNG):c.82C>T (p.Arg28Cys) rs140623763 0.00057
NM_005199.5(CHRNG):c.132G>A (p.Ala44=) rs141402683 0.00050
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616 0.00048
NM_005199.5(CHRNG):c.459dup (p.Val154fs) rs774279192 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_000079.4(CHRNA1):c.779-12_779-11del rs1491478953 0.00039
NM_002834.5(PTPN11):c.*2150G>T rs756441720 0.00039
NM_005199.5(CHRNG):c.1259C>T (p.Pro420Leu) rs146674765 0.00038
NM_005199.5(CHRNG):c.507-12G>A rs184423691 0.00036
NM_002834.5(PTPN11):c.*838G>A rs142648640 0.00035
NM_002834.5(PTPN11):c.*1805C>T rs188162577 0.00033
NM_005199.5(CHRNG):c.1381G>A (p.Gly461Arg) rs143800157 0.00032
NM_002834.5(PTPN11):c.643-6dup rs758889732 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_005199.5(CHRNG):c.753_754del (p.Val253fs) rs767503038 0.00026
NM_002834.5(PTPN11):c.*687C>T rs748512308 0.00025
NM_002755.4(MAP2K1):c.237C>T (p.Gly79=) rs148656020 0.00024
NM_005199.5(CHRNG):c.1075G>A (p.Val359Ile) rs16829208 0.00021
NM_005199.5(CHRNG):c.367G>A (p.Glu123Lys) rs199937736 0.00019
NM_005199.5(CHRNG):c.439C>T (p.Arg147Cys) rs754928609 0.00019
NM_005633.4(SOS1):c.1705C>G (p.Leu569Val) rs200786705 0.00019
NM_005633.4(SOS1):c.233T>G (p.Phe78Cys) rs201352584 0.00019
NM_005199.5(CHRNG):c.1118G>A (p.Arg373Gln) rs144755776 0.00018
NM_004333.6(BRAF):c.240+18A>G rs368584855 0.00017
NM_005199.5(CHRNG):c.426G>A (p.Pro142=) rs375894671 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_004333.6(BRAF):c.1860+16A>G rs368859030 0.00016
NM_005199.5(CHRNG):c.1378A>G (p.Asn460Asp) rs138232636 0.00016
NM_002834.5(PTPN11):c.*720C>T rs770605810 0.00015
NM_002834.5(PTPN11):c.1746C>T (p.Asn582=) rs397516800 0.00013
NM_002834.5(PTPN11):c.*50C>T rs730880328 0.00012
NM_005199.5(CHRNG):c.1421G>A (p.Arg474His) rs16829216 0.00012
NM_005199.5(CHRNG):c.573G>A (p.Glu191=) rs771417982 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_005199.5(CHRNG):c.401_402del (p.Pro134fs) rs747067203 0.00011
NM_005199.5(CHRNG):c.543G>A (p.Gln181=) rs753990044 0.00010
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_004333.6(BRAF):c.1993-11T>C rs750297886 0.00009
NM_004333.6(BRAF):c.399A>G (p.Ser133=) rs397507463 0.00009
NM_005199.5(CHRNG):c.*194G>A rs975418556 0.00009
NM_005199.5(CHRNG):c.*131C>T rs566877095 0.00008
NM_005199.5(CHRNG):c.*201G>C rs144523413 0.00008
NM_005199.5(CHRNG):c.1012T>C (p.Ser338Pro) rs776733115 0.00008
NM_005199.5(CHRNG):c.129C>T (p.Pro43=) rs151276788 0.00008
NM_005199.5(CHRNG):c.737T>A (p.Ile246Asn) rs139998228 0.00008
NM_006767.4(LZTR1):c.1303C>T (p.Arg435Trp) rs369722558 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_005199.5(CHRNG):c.*126C>T rs369614677 0.00007
NM_005199.5(CHRNG):c.*388G>C rs914603576 0.00007
NM_005199.5(CHRNG):c.130G>A (p.Ala44Thr) rs186589083 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.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_004333.6(BRAF):c.504+19C>T rs780617193 0.00006
NM_005199.5(CHRNG):c.1145C>T (p.Ser382Leu) rs774121021 0.00006
NM_005199.5(CHRNG):c.1230G>A (p.Ala410=) rs144948513 0.00006
NM_005199.5(CHRNG):c.806-13C>T rs375760045 0.00006
NM_005199.5(CHRNG):c.994C>T (p.Arg332Trp) rs567899708 0.00006
NM_005199.5(CHRNG):c.1423G>A (p.Val475Ile) rs764228635 0.00005
NM_005199.5(CHRNG):c.913A>G (p.Ile305Val) rs142582718 0.00005
NM_002834.5(PTPN11):c.*740C>T rs886048969 0.00004
NM_002834.5(PTPN11):c.14+11C>A rs1486505121 0.00004
NM_002834.5(PTPN11):c.173A>G (p.Asn58Ser) rs751437780 0.00004
NM_002834.5(PTPN11):c.893A>G (p.Asn298Ser) rs572274623 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_005199.5(CHRNG):c.357C>T (p.Asp119=) rs749995118 0.00004
NM_005199.5(CHRNG):c.397del (p.Ser133fs) rs780249576 0.00004
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln) rs371314838 0.00004
NM_002834.5(PTPN11):c.*3381A>G rs374962107 0.00003
NM_002834.5(PTPN11):c.1174G>A (p.Ala392Thr) rs774356443 0.00003
NM_002834.5(PTPN11):c.1282G>A (p.Val428Met) rs397507536 0.00003
NM_002834.5(PTPN11):c.1327C>T (p.His443Tyr) rs779236638 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_004333.6(BRAF):c.1314+17T>C rs1057524397 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_005199.5(CHRNG):c.*593T>C rs1033983635 0.00003
NM_005199.5(CHRNG):c.*7C>T rs1034629827 0.00003
NM_005199.5(CHRNG):c.239T>C (p.Met80Thr) rs1222999452 0.00003
NM_005199.5(CHRNG):c.330G>A (p.Pro110=) rs149931943 0.00003
NM_005199.5(CHRNG):c.460G>A (p.Val154Ile) rs756232748 0.00003
NM_005199.5(CHRNG):c.56-1G>A rs1265493319 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.*3720T>C rs886048981 0.00002
NM_002834.5(PTPN11):c.1041A>G (p.Gln347=) rs766297596 0.00002
NM_002834.5(PTPN11):c.1190C>T (p.Thr397Met) rs767503386 0.00002
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala) rs201247699 0.00002
NM_002834.5(PTPN11):c.1551G>A (p.Ala517=) rs727504377 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_002834.5(PTPN11):c.461G>C (p.Gly154Ala) rs376027245 0.00002
NM_004333.6(BRAF):c.1433-18G>A rs763267814 0.00002
NM_005199.5(CHRNG):c.1030C>T (p.Arg344Cys) rs554907332 0.00002
NM_005199.5(CHRNG):c.1074C>T (p.His358=) rs761581720 0.00002
NM_005199.5(CHRNG):c.1178T>C (p.Leu393Pro) rs1360277075 0.00002
NM_005199.5(CHRNG):c.1528C>T (p.Arg510Cys) rs762066089 0.00002
NM_005199.5(CHRNG):c.167A>C (p.Lys56Thr) rs376314818 0.00002
NM_005199.5(CHRNG):c.57G>C (p.Gly19=) rs753421728 0.00002
NM_006939.4(SOS2):c.2396C>T (p.Pro799Leu) rs773672997 0.00002
NM_030662.4(MAP2K2):c.326C>T (p.Pro109Leu) rs544242665 0.00002
NM_002524.5(NRAS):c.179G>A (p.Gly60Glu) rs267606920 0.00001
NM_002755.4(MAP2K1):c.693+20T>C rs753107656 0.00001
NM_002755.4(MAP2K1):c.961C>T (p.Pro321Ser) rs771613524 0.00001
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.1233G>A (p.Thr411=) rs1325353647 0.00001
NM_002834.5(PTPN11):c.1366G>A (p.Val456Met) rs397516796 0.00001
NM_002834.5(PTPN11):c.1379+6A>G rs746958309 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.166A>G (p.Ile56Val) rs397507504 0.00001
NM_002834.5(PTPN11):c.1697C>T (p.Thr566Met) rs150730493 0.00001
NM_002834.5(PTPN11):c.1715T>C (p.Met572Thr) rs1415602777 0.00001
NM_002834.5(PTPN11):c.175A>G (p.Thr59Ala) rs886043790 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.518G>A (p.Arg173His) rs369155025 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.643-9C>T rs750520685 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_002834.5(PTPN11):c.983T>C (p.Ile328Thr) rs369430257 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.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.437G>A (p.Arg146Gln) rs557241012 0.00001
NM_004333.6(BRAF):c.712-18T>C rs535496777 0.00001
NM_005199.5(CHRNG):c.*69T>G rs1259742484 0.00001
NM_005199.5(CHRNG):c.136C>T (p.Arg46Ter) rs121912672 0.00001
NM_005199.5(CHRNG):c.137G>A (p.Arg46Gln) rs755148348 0.00001
NM_005199.5(CHRNG):c.1408C>T (p.Arg470Ter) rs121912671 0.00001
NM_005199.5(CHRNG):c.250G>A (p.Asp84Asn) rs771588131 0.00001
NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys) rs777219451 0.00001
NM_005199.5(CHRNG):c.274C>T (p.Arg92Ter) rs1559302834 0.00001
NM_005199.5(CHRNG):c.394G>A (p.Val132Met) rs781249093 0.00001
NM_005199.5(CHRNG):c.428C>G (p.Pro143Arg) rs765746795 0.00001
NM_005199.5(CHRNG):c.5A>T (p.His2Leu) rs775592546 0.00001
NM_005199.5(CHRNG):c.715C>T (p.Arg239Cys) rs121912670 0.00001
NM_006767.4(LZTR1):c.2462T>C (p.Ile821Thr) rs1275511136 0.00001
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) rs1223430276 0.00001
NM_144670.6(A2ML1):c.3397A>C (p.Asn1133His) rs1466413438 0.00001
NC_000012.12:g.112450397_112450398delinsCT rs397516802
NM_000079.4(CHRNA1):c.190-5del rs34695580
NM_000079.4(CHRNA1):c.779-12del rs67309103
NM_000079.4(CHRNA1):c.779-13_779-12del rs67309103
NM_000751.3(CHRND):c.*144_*145insAG rs530814490
NM_000751.3(CHRND):c.*547G>C rs2343841
NM_000751.3(CHRND):c.*623_*627dup rs886055785
NM_001370466.1(NOD2):c.656T>C (p.Leu219Pro)
NM_002524.5(NRAS):c.101C>T (p.Pro34Leu) rs397514553
NM_002524.5(NRAS):c.149C>T (p.Thr50Ile) rs267606921
NM_002524.5(NRAS):c.173C>T (p.Thr58Ile) rs2101742052
NM_002524.5(NRAS):c.71T>A (p.Ile24Asn) rs869025573
NM_002755.4(MAP2K1):c.291+14_291+20delinsTCTCACCAATCACCA rs1064795401
NM_002755.4(MAP2K1):c.323G>T (p.Arg108Leu) rs727504819
NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp) rs876657651
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
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.*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.*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.1070C>T (p.Thr357Met)
NM_002834.5(PTPN11):c.1095T>A (p.Ser365Arg)
NM_002834.5(PTPN11):c.1144G>A (p.Val382Ile) rs1214510641
NM_002834.5(PTPN11):c.1187A>G (p.Tyr396Cys)
NM_002834.5(PTPN11):c.1205A>C (p.Lys402Thr)
NM_002834.5(PTPN11):c.1221A>G (p.Gly407=) rs532529560
NM_002834.5(PTPN11):c.1232C>T (p.Thr411Met) rs121918467
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.1271C>T (p.Pro424Leu) rs1592852902
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.1282G>C (p.Val428Leu) rs397507536
NM_002834.5(PTPN11):c.1282G>T (p.Val428Leu) rs397507536
NM_002834.5(PTPN11):c.1303G>A (p.Val435Met) rs1054802954
NM_002834.5(PTPN11):c.1361C>T (p.Pro454Leu) rs1566185599
NM_002834.5(PTPN11):c.1374C>A (p.His458Gln) rs727504393
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr) rs121918468
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.5(PTPN11):c.14+8G>T rs886048965
NM_002834.5(PTPN11):c.1409T>C (p.Ile470Thr) rs2038706856
NM_002834.5(PTPN11):c.1420A>G (p.Ile474Val)
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr) rs397507539
NM_002834.5(PTPN11):c.1471C>G (p.Pro491Ala) rs397507539
NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser) 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>A (p.Arg498Gln)
NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu) rs397507542
NM_002834.5(PTPN11):c.1495T>C (p.Ser499Pro)
NM_002834.5(PTPN11):c.1498C>G (p.Gln500Glu) rs2038714548
NM_002834.5(PTPN11):c.1502G>A (p.Arg501Lys) rs397507543
NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr) rs121918458
NM_002834.5(PTPN11):c.1505C>T (p.Ser502Leu) rs397507544
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.1520C>A (p.Thr507Lys) rs886039463
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.1530G>T (p.Gln510His)
NM_002834.5(PTPN11):c.155C>T (p.Thr52Ile) rs397507503
NM_002834.5(PTPN11):c.1599+4C>A rs142606486
NM_002834.5(PTPN11):c.1648G>A (p.Ala550Thr)
NM_002834.5(PTPN11):c.167T>C (p.Ile56Thr) rs1052382672
NM_002834.5(PTPN11):c.1685C>T (p.Pro562Leu) rs2038884191
NM_002834.5(PTPN11):c.172A>C (p.Asn58His) rs397507505
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.1742A>C (p.Glu581Ala) rs2135930864
NM_002834.5(PTPN11):c.174C>A (p.Asn58Lys) rs397507506
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>A (p.Gly60Asp) rs397507509
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala) rs397507509
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val) rs397507509
NM_002834.5(PTPN11):c.179_181del (p.Gly60del) rs80338836
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) rs397507510
NM_002834.5(PTPN11):c.181G>C (p.Asp61His) rs397507510
NM_002834.5(PTPN11):c.181G>T (p.Asp61Tyr) rs397507510
NM_002834.5(PTPN11):c.181_183del (p.Asp61del) rs869025574
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.5(PTPN11):c.184T>A (p.Tyr62Asn) rs121918460
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.5(PTPN11):c.205G>A (p.Glu69Lys) rs397507511
NM_002834.5(PTPN11):c.205G>C (p.Glu69Gln) rs397507511
NM_002834.5(PTPN11):c.206A>T (p.Glu69Val) rs727503380
NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg) rs397516801
NM_002834.5(PTPN11):c.211T>C (p.Phe71Leu) rs397507512
NM_002834.5(PTPN11):c.211T>G (p.Phe71Val) rs397507512
NM_002834.5(PTPN11):c.213T>A (p.Phe71Leu)
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr) 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.217A>C (p.Thr73Pro) rs397507513
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.226G>A (p.Glu76Lys) rs121918464
NM_002834.5(PTPN11):c.226G>C (p.Glu76Gln) rs121918464
NM_002834.5(PTPN11):c.228G>C (p.Glu76Asp) rs397507514
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.256G>A (p.Gly86Arg) rs925129380
NM_002834.5(PTPN11):c.289G>A (p.Glu97Lys) rs397507516
NM_002834.5(PTPN11):c.2T>G (p.Met1Arg)
NM_002834.5(PTPN11):c.302C>T (p.Pro101Leu)
NM_002834.5(PTPN11):c.317A>C (p.Asp106Ala) rs397507517
NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys) rs397507518
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.417G>T (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.467A>G (p.Asp156Gly)
NM_002834.5(PTPN11):c.473G>C (p.Gly158Ala) rs1555267825
NM_002834.5(PTPN11):c.500T>C (p.Val167Ala)
NM_002834.5(PTPN11):c.501G>C (p.Val167=)
NM_002834.5(PTPN11):c.503C>T (p.Thr168Ile)
NM_002834.5(PTPN11):c.513G>C (p.Met171Ile)
NM_002834.5(PTPN11):c.519C>G (p.Arg173=) rs767425313
NM_002834.5(PTPN11):c.521G>A (p.Cys174Tyr)
NM_002834.5(PTPN11):c.529C>G (p.Leu177Val)
NM_002834.5(PTPN11):c.53A>G (p.Asn18Ser) rs587778635
NM_002834.5(PTPN11):c.557G>A (p.Arg186Gln)
NM_002834.5(PTPN11):c.570G>T (p.Leu190Phe)
NM_002834.5(PTPN11):c.585A>C (p.Glu195Asp)
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002834.5(PTPN11):c.643-20C>A
NM_002834.5(PTPN11):c.64A>G (p.Thr22Ala)
NM_002834.5(PTPN11):c.661A>G (p.Ile221Val) rs397516806
NM_002834.5(PTPN11):c.663A>G (p.Ile221Met)
NM_002834.5(PTPN11):c.683G>T (p.Ser228Ile) rs748085966
NM_002834.5(PTPN11):c.691C>T (p.Arg231Ter) rs2038154558
NM_002834.5(PTPN11):c.709G>A (p.Ala237Thr)
NM_002834.5(PTPN11):c.762ACA[2] (p.Gln257del) rs397507524
NM_002834.5(PTPN11):c.762ACA[4] (p.Gln257dup) 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.772G>A (p.Glu258Lys) rs1279770165
NM_002834.5(PTPN11):c.784C>T (p.Leu262Phe)
NM_002834.5(PTPN11):c.785T>G (p.Leu262Arg) rs397507526
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>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.841A>G (p.Asn281Asp)
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met) rs397507530
NM_002834.5(PTPN11):c.853+19C>T
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.854-14T>A rs2038526676
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_002834.5(PTPN11):c.855T>G (p.Phe285Leu) rs397516810
NM_002834.5(PTPN11):c.865A>G (p.Arg289Gly) rs2135901005
NM_002834.5(PTPN11):c.881A>G (p.Asp294Gly)
NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr) rs121918455
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002880.4(RAF1):c.766A>G (p.Arg256Gly) rs397516825
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.4(RAF1):c.775T>A (p.Ser259Thr) rs3730271
NM_002880.4(RAF1):c.781C>A (p.Pro261Thr) rs121434594
NM_002880.4(RAF1):c.781C>T (p.Pro261Ser) rs121434594
NM_002880.4(RAF1):c.788T>G (p.Val263Gly) rs397516830
NM_004004.6(GJB2):c.205T>C (p.Phe69Leu) rs1593351503
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.1406G>A (p.Gly469Glu) rs121913355
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.1593G>C (p.Trp531Cys) rs606231228
NM_004333.6(BRAF):c.1719C>A (p.Ile573=) rs2128999629
NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp) rs180177040
NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys) rs397516895
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) rs121913369
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004333.6(BRAF):c.1914T>G (p.Asp638Glu) rs180177042
NM_004333.6(BRAF):c.1940A>G (p.Tyr647Cys) rs1562939198
NM_004333.6(BRAF):c.1992+16G>C rs3789806
NM_004333.6(BRAF):c.2128-27_2128-19del rs761539834
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_004333.6(BRAF):c.722C>G (p.Thr241Arg) rs387906660
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.736G>C (p.Ala246Pro) rs180177034
NM_004333.6(BRAF):c.739T>C (p.Phe247Leu) rs397516903
NM_004333.6(BRAF):c.741T>A (p.Phe247Leu)
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_004985.5(KRAS):c.101C>T (p.Pro34Leu) rs104894366
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_005188.4(CBL):c.1111T>A (p.Tyr371Asn) rs267606706
NM_005199.5(CHRNG):c.*181T>C rs944288485
NM_005199.5(CHRNG):c.*291C>G rs1044726391
NM_005199.5(CHRNG):c.*477C>A rs59295139
NM_005199.5(CHRNG):c.*508T>C rs886055787
NM_005199.5(CHRNG):c.*589_*590dup rs1553578775
NM_005199.5(CHRNG):c.*591_*592insTT rs1553578776
NM_005199.5(CHRNG):c.*592C>T rs72991940
NM_005199.5(CHRNG):c.*592_*598del rs199761478
NM_005199.5(CHRNG):c.*609_*612dup rs57021172
NM_005199.5(CHRNG):c.*611_*612dup rs57021172
NM_005199.5(CHRNG):c.1010_1011del (p.His337fs)
NM_005199.5(CHRNG):c.1035+2C>A
NM_005199.5(CHRNG):c.1035+2C>G
NM_005199.5(CHRNG):c.1036-8CT[2] rs3217418
NM_005199.5(CHRNG):c.1081_1102del (p.Pro361fs)
NM_005199.5(CHRNG):c.1105G>A (p.Asp369Asn) rs1406594207
NM_005199.5(CHRNG):c.1143G>A (p.Trp381Ter) rs1055176338
NM_005199.5(CHRNG):c.117dup (p.Asn40fs) rs797044677
NM_005199.5(CHRNG):c.11dup (p.Gln5fs)
NM_005199.5(CHRNG):c.1213C>T (p.Arg405Trp) rs760473901
NM_005199.5(CHRNG):c.1227G>A (p.Val409=) rs1692086043
NM_005199.5(CHRNG):c.1256_1263del (p.Gly419fs)
NM_005199.5(CHRNG):c.1354del (p.Arg452fs)
NM_005199.5(CHRNG):c.1366_1367del (p.His457fs) rs1309599304
NM_005199.5(CHRNG):c.1380+1G>A
NM_005199.5(CHRNG):c.13C>T (p.Gln5Ter) rs267606725
NM_005199.5(CHRNG):c.145del (p.Asp49fs)
NM_005199.5(CHRNG):c.166A>T (p.Lys56Ter)
NM_005199.5(CHRNG):c.196-9C>T rs182635953
NM_005199.5(CHRNG):c.202C>T (p.Arg68Ter) rs764266722
NM_005199.5(CHRNG):c.234A>T (p.Ile78=) rs1691992464
NM_005199.5(CHRNG):c.240+1del rs777809198
NM_005199.5(CHRNG):c.241C>T (p.Gln81Ter) rs1574643342
NM_005199.5(CHRNG):c.246G>A (p.Trp82Ter)
NM_005199.5(CHRNG):c.249C>A (p.Cys83Ter)
NM_005199.5(CHRNG):c.257G>A (p.Arg86His)
NM_005199.5(CHRNG):c.292_300dup (p.Leu100_Arg101insTrpValLeu)
NM_005199.5(CHRNG):c.2T>C (p.Met1Thr)
NM_005199.5(CHRNG):c.301_309dup (p.Arg101_Pro103dup) rs863223313
NM_005199.5(CHRNG):c.320T>G (p.Val107Gly) rs267606726
NM_005199.5(CHRNG):c.350+2T>C
NM_005199.5(CHRNG):c.350+4A>G
NM_005199.5(CHRNG):c.351-2A>G
NM_005199.5(CHRNG):c.351-9T>C rs764382582
NM_005199.5(CHRNG):c.402del (p.Asp135fs)
NM_005199.5(CHRNG):c.420G>A (p.Trp140Ter)
NM_005199.5(CHRNG):c.440G>T (p.Arg147Leu) rs144323121
NM_005199.5(CHRNG):c.474C>T (p.Pro158=) rs145907618
NM_005199.5(CHRNG):c.482G>A (p.Trp161Ter)
NM_005199.5(CHRNG):c.493_494delinsCAGTGAGGCCATTTATTGGGGAGG (p.Ser165delinsGlnTer)
NM_005199.5(CHRNG):c.532_533del (p.Glu177_Ile178insTer)
NM_005199.5(CHRNG):c.55+5G>A
NM_005199.5(CHRNG):c.56-2A>G
NM_005199.5(CHRNG):c.613G>T (p.Glu205Ter) rs2106221597
NM_005199.5(CHRNG):c.708C>T (p.Leu236=) rs1308873617
NM_005199.5(CHRNG):c.710_711delinsAA (p.Ile237Lys) rs1574645121
NM_005199.5(CHRNG):c.754del (p.Cys252fs)
NM_005199.5(CHRNG):c.805+1G>A
NM_005199.5(CHRNG):c.807dup (p.Gly270fs)
NM_005199.5(CHRNG):c.814del (p.Gln272fs) rs2106221927
NM_005199.5(CHRNG):c.895T>A (p.Ser299Thr) rs2106221995
NM_005199.5(CHRNG):c.920+2_920+5del
NM_005199.5(CHRNG):c.921-68del rs10714586
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005633.4(SOS1):c.1297G>A (p.Glu433Lys) rs397517147
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg) rs397517148
NM_005633.4(SOS1):c.1642A>C (p.Ser548Arg) rs397517149
NM_005633.4(SOS1):c.1649T>C (p.Leu550Pro) rs397517153
NM_005633.4(SOS1):c.1653_1655del (p.Arg552del) rs1572830219
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys) rs397517154
NM_005633.4(SOS1):c.1655G>C (p.Arg552Thr) rs397517154
NM_005633.4(SOS1):c.1656G>C (p.Arg552Ser) rs267607079
NM_005633.4(SOS1):c.1727G>T (p.Arg576Ile) rs1553356023
NM_005633.4(SOS1):c.1867T>A (p.Phe623Ile) rs727505093
NM_005633.4(SOS1):c.797C>A (p.Thr266Lys) rs137852812
NM_005633.4(SOS1):c.806T>C (p.Met269Thr) rs137852813
NM_005633.4(SOS1):c.806T>G (p.Met269Arg) rs137852813
NM_006506.5(RASA2):c.716C>T (p.Ser239Phe)
NM_006767.4(LZTR1):c.2238del (p.Tyr747fs)
NM_006767.4(LZTR1):c.2426T>G (p.Leu809Arg)
NM_006767.4(LZTR1):c.690C>G (p.Asn230Lys)
NM_006767.4(LZTR1):c.730T>C (p.Ser244Pro) rs1601718760
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006767.4(LZTR1):c.851G>A (p.Arg284His) rs768361273
NM_006912.6(RIT1):c.112A>G (p.Thr38Ala) rs1557962699
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) rs672601334
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.6(RIT1):c.229G>T (p.Ala77Ser) rs869025191
NM_006912.6(RIT1):c.245T>C (p.Phe82Ser) rs868208063
NM_006912.6(RIT1):c.246T>A (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.247A>C (p.Thr83Pro) rs869025195
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006912.6(RIT1):c.69A>C (p.Lys23Asn) rs1557962794
NM_006912.6(RIT1):c.91G>C (p.Gly31Arg) rs1571999498
NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser) rs869320687
NM_030662.4(MAP2K2):c.183A>T (p.Lys61Asn) rs886041310
NM_030662.4(MAP2K2):c.400T>C (p.Tyr134His) rs121434499
NM_030662.4(MAP2K2):c.401A>G (p.Tyr134Cys) rs727504370
NM_033360.4(KRAS):c.347A>G (p.Asn116Ser) rs202247812

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