ClinVar Miner

List of variants studied for Noonan syndrome 1

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ClinVar version:
Total variants: 245
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HGVS dbSNP gnomAD frequency
NM_002834.3(PTPN11):c.-273G>A rs58805176 0.10884
NM_002834.5(PTPN11):c.1093-9C>A rs12301915 0.04151
NM_002834.5(PTPN11):c.255C>T (p.His85=) rs61736914 0.02271
NM_002834.5(PTPN11):c.*670G>A rs112287134 0.01588
NM_002834.5(PTPN11):c.*801C>T rs138246203 0.01271
NM_002834.5(PTPN11):c.525+12G>C rs41304351 0.01035
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_002834.5(PTPN11):c.*325G>A rs192080780 0.00304
NM_002834.5(PTPN11):c.*775G>A rs181946923 0.00230
NM_002834.5(PTPN11):c.*2078G>A rs144513512 0.00193
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.*3971A>G rs572565511 0.00044
NM_002834.5(PTPN11):c.*2150G>T rs756441720 0.00039
NM_002834.5(PTPN11):c.*838G>A rs142648640 0.00035
NM_002834.5(PTPN11):c.*1805C>T rs188162577 0.00033
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_002834.5(PTPN11):c.*687C>T rs748512308 0.00020
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_002834.5(PTPN11):c.*1806G>A rs766598691 0.00016
NM_002880.4(RAF1):c.119G>A (p.Arg40His) rs192632236 0.00016
NM_002834.5(PTPN11):c.*720C>T rs770605810 0.00015
NM_002834.5(PTPN11):c.*50C>T rs730880328 0.00012
NM_002834.5(PTPN11):c.558G>T (p.Arg186=) rs200920312 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_006767.4(LZTR1):c.1303C>T (p.Arg435Trp) rs369722558 0.00008
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_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.*3720T>C rs886048981 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.1379+6A>G rs746958309 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_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.1190C>T (p.Thr397Met) rs767503386 0.00002
NM_002834.5(PTPN11):c.461G>C (p.Gly154Ala) rs376027245 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_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.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.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) rs397507529 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_002834.5(PTPN11):c.951G>A (p.Lys317=) rs576405446 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
NM_001374258.1(BRAF):c.2034T>G (p.Asp678Glu) rs180177042
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.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.1095T>A (p.Ser365Arg)
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.1271C>T (p.Pro424Leu) rs1592852902
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.1361C>T (p.Pro454Leu) rs1566185599
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.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>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.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.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.155C>T (p.Thr52Ile) rs397507503
NM_002834.5(PTPN11):c.1599+4C>A rs142606486
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.174C>A (p.Asn58Lys) rs397507506
NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
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.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.209A>G (p.Lys70Arg) rs397516801
NM_002834.5(PTPN11):c.211T>C (p.Phe71Leu) 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.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.317A>C (p.Asp106Ala) rs397507517
NM_002834.5(PTPN11):c.329A>C (p.Glu110Ala) 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.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.53A>G (p.Asn18Ser) rs587778635
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002834.5(PTPN11):c.663A>G (p.Ile221Met)
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.772G>A (p.Glu258Lys) rs1279770165
NM_002834.5(PTPN11):c.785T>G (p.Leu262Arg) rs397507526
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.846C>G (p.Ile282Met) rs397507530
NM_002834.5(PTPN11):c.853+8T>C rs886048966
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) 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.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.1406G>A (p.Gly469Glu) rs121913355
NM_004333.6(BRAF):c.1593G>C (p.Trp531Cys) rs606231228
NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp) rs180177040
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) rs121913369
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.736G>C (p.Ala246Pro) rs180177034
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_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.690C>G (p.Asn230Lys)
NM_006767.4(LZTR1):c.730T>C (p.Ser244Pro) rs1601718760
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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