ClinVar Miner

List of variants in gene TGFBR2 reported as uncertain significance for Loeys-Dietz syndrome 2

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Gene type:
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Total variants: 236
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HGVS dbSNP gnomAD frequency
NM_003242.6(TGFBR2):c.*2066G>A rs566913021 0.00116
NM_003242.6(TGFBR2):c.*443A>G rs188599299 0.00065
NM_003242.6(TGFBR2):c.*86A>G rs540602629 0.00021
NM_003242.6(TGFBR2):c.*407A>G rs917786105 0.00015
NM_003242.6(TGFBR2):c.-371A>C rs886058297 0.00010
NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu) rs768385200 0.00010
NM_003242.6(TGFBR2):c.1616G>T (p.Ser539Ile) rs1035228561 0.00009
NM_003242.6(TGFBR2):c.125A>G (p.Asn42Ser) rs1305653433 0.00008
NM_003242.6(TGFBR2):c.1013C>T (p.Thr338Met) rs752866783 0.00007
NM_003242.6(TGFBR2):c.*1637G>A rs1032978663 0.00006
NM_003242.6(TGFBR2):c.1066C>G (p.Arg356Gly) rs199660234 0.00006
NM_003242.6(TGFBR2):c.937C>T (p.Arg313Trp) rs55751315 0.00006
NM_003242.6(TGFBR2):c.340G>C (p.Glu114Gln) rs771551560 0.00005
NM_003242.6(TGFBR2):c.689C>T (p.Thr230Met) rs150116445 0.00005
NM_003242.6(TGFBR2):c.91T>G (p.Ser31Ala) rs761400349 0.00005
NM_003242.6(TGFBR2):c.*1572A>G rs878857301 0.00004
NM_003242.6(TGFBR2):c.*2340T>C rs886058328 0.00004
NM_003242.6(TGFBR2):c.*352A>G rs565524213 0.00004
NM_003242.6(TGFBR2):c.*988C>T rs138036906 0.00004
NM_003242.6(TGFBR2):c.116C>A (p.Thr39Asn) rs146277116 0.00004
NM_003242.6(TGFBR2):c.1316T>C (p.Val439Ala) rs1050833 0.00004
NM_003242.6(TGFBR2):c.394A>G (p.Thr132Ala) rs146497045 0.00004
NM_003242.6(TGFBR2):c.617C>T (p.Thr206Met) rs150022335 0.00004
NM_003242.6(TGFBR2):c.620G>A (p.Arg207Gln) rs371209879 0.00004
NM_003242.6(TGFBR2):c.69G>T (p.Thr23=) rs878854612 0.00004
NM_003242.6(TGFBR2):c.893A>G (p.Asn298Ser) rs751587466 0.00004
NM_003242.6(TGFBR2):c.938G>A (p.Arg313Gln) rs200361387 0.00004
NM_003242.6(TGFBR2):c.95-3C>A rs375330013 0.00004
NM_003242.6(TGFBR2):c.*989G>A rs886058316 0.00003
NM_003242.6(TGFBR2):c.1027A>G (p.Ser343Gly) rs758614833 0.00003
NM_003242.6(TGFBR2):c.452A>T (p.Glu151Val) rs757051948 0.00003
NM_003242.6(TGFBR2):c.569G>A (p.Arg190His) rs780542125 0.00003
NM_003242.6(TGFBR2):c.64A>T (p.Ser22Cys) rs767407566 0.00003
NM_003242.6(TGFBR2):c.671G>A (p.Arg224His) rs112465572 0.00003
NM_003242.6(TGFBR2):c.81C>T (p.His27=) rs1057520957 0.00003
NM_003242.6(TGFBR2):c.*2425C>A rs886058329 0.00002
NM_003242.6(TGFBR2):c.*579T>C rs1259191128 0.00002
NM_003242.6(TGFBR2):c.1042C>T (p.Arg348Cys) rs144701411 0.00002
NM_003242.6(TGFBR2):c.1043G>A (p.Arg348His) rs369450067 0.00002
NM_003242.6(TGFBR2):c.1063G>A (p.Ala355Thr) rs104893813 0.00002
NM_003242.6(TGFBR2):c.1459A>C (p.Met487Leu) rs767120937 0.00002
NM_003242.6(TGFBR2):c.277G>A (p.Glu93Lys) rs766473954 0.00002
NM_003242.6(TGFBR2):c.*1201C>T rs886058318 0.00001
NM_003242.6(TGFBR2):c.*1465T>C rs1171877784 0.00001
NM_003242.6(TGFBR2):c.*1887G>A rs886058324 0.00001
NM_003242.6(TGFBR2):c.*820G>A rs1259248325 0.00001
NM_003242.6(TGFBR2):c.1153A>G (p.Ile385Val) rs137908708 0.00001
NM_003242.6(TGFBR2):c.1207C>T (p.Arg403Cys) rs886038960 0.00001
NM_003242.6(TGFBR2):c.1222C>A (p.Leu408Met) rs770352403 0.00001
NM_003242.6(TGFBR2):c.1397A>T (p.Glu466Val) rs1321865816 0.00001
NM_003242.6(TGFBR2):c.1471G>A (p.Val491Met) rs754176932 0.00001
NM_003242.6(TGFBR2):c.1517A>G (p.Asn506Ser) rs780087626 0.00001
NM_003242.6(TGFBR2):c.1525-10C>G rs747069454 0.00001
NM_003242.6(TGFBR2):c.1546A>T (p.Thr516Ser) rs370708687 0.00001
NM_003242.6(TGFBR2):c.1643C>T (p.Ser548Leu) rs755070814 0.00001
NM_003242.6(TGFBR2):c.1645G>T (p.Gly549Trp) rs748418894 0.00001
NM_003242.6(TGFBR2):c.1658C>T (p.Ser553Leu) rs569635708 0.00001
NM_003242.6(TGFBR2):c.1681G>A (p.Gly561Ser) rs768103695 0.00001
NM_003242.6(TGFBR2):c.403A>G (p.Met135Val) rs377455599 0.00001
NM_003242.6(TGFBR2):c.412T>G (p.Cys138Gly) rs863223838 0.00001
NM_003242.6(TGFBR2):c.43G>T (p.Val15Phe) rs1182907194 0.00001
NM_003242.6(TGFBR2):c.505G>C (p.Gly169Arg) rs759362407 0.00001
NM_003242.6(TGFBR2):c.54G>C (p.Thr18=) rs139456857 0.00001
NM_003242.6(TGFBR2):c.556T>A (p.Phe186Ile) rs368346624 0.00001
NM_003242.6(TGFBR2):c.578G>A (p.Arg193Gln) rs748437880 0.00001
NM_003242.6(TGFBR2):c.619C>T (p.Arg207Trp) rs775640617 0.00001
NM_003242.6(TGFBR2):c.640G>A (p.Glu214Lys) rs764821003 0.00001
NM_003242.6(TGFBR2):c.670C>T (p.Arg224Cys) rs748195637 0.00001
NM_003242.6(TGFBR2):c.740A>T (p.Asp247Val) rs761231369 0.00001
NM_003242.6(TGFBR2):c.76C>T (p.Pro26Ser) rs764160271 0.00001
NM_003242.6(TGFBR2):c.776A>G (p.Tyr259Cys) rs767919854 0.00001
NM_003242.6(TGFBR2):c.803C>T (p.Ser268Leu) rs139078984 0.00001
NM_003242.6(TGFBR2):c.842A>G (p.Tyr281Cys) rs1210616464 0.00001
NM_003242.6(TGFBR2):c.95-10C>G rs952006496 0.00001
NM_003242.6(TGFBR2):c.95-3679C>A rs1312697004 0.00001
NM_003242.6(TGFBR2):c.953G>C (p.Gly318Ala) rs754785934 0.00001
GRCh37/hg19 3p24.1(chr3:30729876-30730003)
NM_003242.5(TGFBR2):c.-388C>T rs1697919506
NM_003242.6(TGFBR2):c.*1207A>G rs1699738762
NM_003242.6(TGFBR2):c.*1326G>A rs886058320
NM_003242.6(TGFBR2):c.*1327C>G rs1699740473
NM_003242.6(TGFBR2):c.*1715A>G rs559265897
NM_003242.6(TGFBR2):c.*1966A>G rs1699748594
NM_003242.6(TGFBR2):c.*2332A>C rs886058326
NM_003242.6(TGFBR2):c.*2335T>A rs886058327
NM_003242.6(TGFBR2):c.*33A>G rs886058306
NM_003242.6(TGFBR2):c.*3C>A
NM_003242.6(TGFBR2):c.*799A>G rs886058315
NM_003242.6(TGFBR2):c.*859G>A rs548242538
NM_003242.6(TGFBR2):c.-18C>A rs753369354
NM_003242.6(TGFBR2):c.-1C>T
NM_003242.6(TGFBR2):c.-249T>G rs886058299
NM_003242.6(TGFBR2):c.-26G>A rs752752584
NM_003242.6(TGFBR2):c.-9G>A
NM_003242.6(TGFBR2):c.1002G>T (p.Gln334His) rs1699354101
NM_003242.6(TGFBR2):c.1007A>T (p.Tyr336Phe) rs1699354286
NM_003242.6(TGFBR2):c.1016G>C (p.Arg339Pro) rs727503473
NM_003242.6(TGFBR2):c.1021G>C (p.Val341Leu)
NM_003242.6(TGFBR2):c.103G>A (p.Asp35Asn) rs984098699
NM_003242.6(TGFBR2):c.103G>C (p.Asp35His) rs984098699
NM_003242.6(TGFBR2):c.1047G>C (p.Lys349Asn) rs2125435790
NM_003242.6(TGFBR2):c.1063G>T (p.Ala355Ser)
NM_003242.6(TGFBR2):c.1066C>T (p.Arg356Trp) rs199660234
NM_003242.6(TGFBR2):c.1085A>G (p.His362Arg) rs863223842
NM_003242.6(TGFBR2):c.1087A>G (p.Ser363Gly) rs2125436087
NM_003242.6(TGFBR2):c.1092T>A (p.Asp364Glu)
NM_003242.6(TGFBR2):c.1096A>G (p.Thr366Ala) rs777332888
NM_003242.6(TGFBR2):c.1097C>T (p.Thr366Ile)
NM_003242.6(TGFBR2):c.1115A>G (p.Lys372Arg)
NM_003242.6(TGFBR2):c.1120C>T (p.Pro374Ser) rs863223843
NM_003242.6(TGFBR2):c.1121C>T (p.Pro374Leu) rs1057524399
NM_003242.6(TGFBR2):c.1126G>T (p.Val376Leu)
NM_003242.6(TGFBR2):c.1168G>A (p.Asp390Asn) rs2125436704
NM_003242.6(TGFBR2):c.1177T>G (p.Cys393Gly) rs2125436754
NM_003242.6(TGFBR2):c.1194T>G (p.Phe398Leu)
NM_003242.6(TGFBR2):c.1208G>T (p.Arg403Leu)
NM_003242.6(TGFBR2):c.1219A>G (p.Thr407Ala) rs1559467311
NM_003242.6(TGFBR2):c.1236C>A (p.Asp412Glu) rs1699361148
NM_003242.6(TGFBR2):c.1238T>A (p.Leu413Gln) rs1559467328
NM_003242.6(TGFBR2):c.1243A>G (p.Asn415Asp)
NM_003242.6(TGFBR2):c.1247G>C (p.Ser416Thr)
NM_003242.6(TGFBR2):c.124A>G (p.Asn42Asp)
NM_003242.6(TGFBR2):c.1254+8A>G rs200630803
NM_003242.6(TGFBR2):c.1265C>T (p.Ala422Val)
NM_003242.6(TGFBR2):c.127G>A (p.Gly43Ser)
NM_003242.6(TGFBR2):c.1313A>C (p.Asn438Thr)
NM_003242.6(TGFBR2):c.1357G>T (p.Val453Leu)
NM_003242.6(TGFBR2):c.1370T>C (p.Met457Thr)
NM_003242.6(TGFBR2):c.1373C>T (p.Thr458Ile) rs1699394098
NM_003242.6(TGFBR2):c.1386T>G (p.Asn462Lys) rs2125439408
NM_003242.6(TGFBR2):c.1397-12C>A
NM_003242.6(TGFBR2):c.1403A>T (p.Lys468Ile)
NM_003242.6(TGFBR2):c.1427C>T (p.Ser476Phe)
NM_003242.6(TGFBR2):c.1448G>C (p.Cys483Ser)
NM_003242.6(TGFBR2):c.1460T>C (p.Met487Thr)
NM_003242.6(TGFBR2):c.1469A>G (p.Asn490Ser)
NM_003242.6(TGFBR2):c.1486G>A (p.Gly496Arg)
NM_003242.6(TGFBR2):c.148C>G (p.Leu50Val) rs1698701049
NM_003242.6(TGFBR2):c.1490G>A (p.Arg497Gln) rs200958264
NM_003242.6(TGFBR2):c.1501C>T (p.Pro501Ser)
NM_003242.6(TGFBR2):c.1507T>C (p.Phe503Leu) rs772201128
NM_003242.6(TGFBR2):c.151T>C (p.Cys51Arg) rs1559456531
NM_003242.6(TGFBR2):c.1524+11_1524+14del
NM_003242.6(TGFBR2):c.1595A>G (p.Gln532Arg)
NM_003242.6(TGFBR2):c.15_25dup (p.Leu9fs) rs1559443652
NM_003242.6(TGFBR2):c.1603_1609delinsA (p.Ala535_Arg537delinsSer)
NM_003242.6(TGFBR2):c.1616G>A (p.Ser539Asn)
NM_003242.6(TGFBR2):c.1633G>A (p.Asp545Asn)
NM_003242.6(TGFBR2):c.1635C>G (p.Asp545Glu) rs1178327690
NM_003242.6(TGFBR2):c.1647del (p.Arg550fs)
NM_003242.6(TGFBR2):c.1653_1665dup (p.Lys556fs) rs767015322
NM_003242.6(TGFBR2):c.1663G>A (p.Glu555Lys) rs1325892805
NM_003242.6(TGFBR2):c.166G>A (p.Val56Met)
NM_003242.6(TGFBR2):c.1680C>G (p.Asp560Glu) rs376815143
NM_003242.6(TGFBR2):c.168G>A (p.Val56=)
NM_003242.6(TGFBR2):c.1696A>G (p.Thr566Ala)
NM_003242.6(TGFBR2):c.1699A>G (p.Lys567Glu)
NM_003242.6(TGFBR2):c.182G>A (p.Cys61Tyr) rs2125404783
NM_003242.6(TGFBR2):c.190C>A (p.Gln64Lys)
NM_003242.6(TGFBR2):c.202A>G (p.Met68Val)
NM_003242.6(TGFBR2):c.208A>G (p.Asn70Asp)
NM_003242.6(TGFBR2):c.215G>A (p.Ser72Asn) rs764941621
NM_003242.6(TGFBR2):c.221C>A (p.Thr74Asn)
NM_003242.6(TGFBR2):c.226A>C (p.Ile76Leu)
NM_003242.6(TGFBR2):c.227T>C (p.Ile76Thr)
NM_003242.6(TGFBR2):c.235A>G (p.Lys79Glu)
NM_003242.6(TGFBR2):c.256G>T (p.Ala86Ser)
NM_003242.6(TGFBR2):c.281A>C (p.Asn94Thr)
NM_003242.6(TGFBR2):c.285_286del (p.Leu97fs)
NM_003242.6(TGFBR2):c.291_293del (p.Glu98del)
NM_003242.6(TGFBR2):c.296C>T (p.Thr99Ile) rs863223837
NM_003242.6(TGFBR2):c.302G>A (p.Cys101Tyr)
NM_003242.6(TGFBR2):c.310C>A (p.Pro104Thr)
NM_003242.6(TGFBR2):c.310C>T (p.Pro104Ser) rs193922665
NM_003242.6(TGFBR2):c.311C>G (p.Pro104Arg)
NM_003242.6(TGFBR2):c.315G>C (p.Lys105Asn)
NM_003242.6(TGFBR2):c.344A>T (p.Asp115Val)
NM_003242.6(TGFBR2):c.347C>T (p.Ala116Val)
NM_003242.6(TGFBR2):c.358A>G (p.Lys120Glu) rs2125410292
NM_003242.6(TGFBR2):c.35_55dup (p.Thr18_Arg19insLeuHisIleValLeuTrpThr)
NM_003242.6(TGFBR2):c.383dup (p.Pro129fs) rs79375991
NM_003242.6(TGFBR2):c.385C>G (p.Pro129Ala) rs770216059
NM_003242.6(TGFBR2):c.395C>T (p.Thr132Ile) rs1402755105
NM_003242.6(TGFBR2):c.39C>A (p.His13Gln)
NM_003242.6(TGFBR2):c.427T>C (p.Cys143Arg)
NM_003242.6(TGFBR2):c.431A>G (p.Asn144Ser)
NM_003242.6(TGFBR2):c.432T>A (p.Asn144Lys)
NM_003242.6(TGFBR2):c.442A>G (p.Ile148Val)
NM_003242.6(TGFBR2):c.443T>C (p.Ile148Thr)
NM_003242.6(TGFBR2):c.44T>A (p.Val15Asp)
NM_003242.6(TGFBR2):c.454+3G>A rs2125410813
NM_003242.6(TGFBR2):c.454G>A (p.Glu152Lys) rs778675253
NM_003242.6(TGFBR2):c.468C>G (p.Ser156Arg)
NM_003242.6(TGFBR2):c.4G>A (p.Gly2Ser)
NM_003242.6(TGFBR2):c.500T>C (p.Val167Ala) rs779052721
NM_003242.6(TGFBR2):c.530G>A (p.Gly177Glu)
NM_003242.6(TGFBR2):c.538A>G (p.Ile180Val) rs1699340728
NM_003242.6(TGFBR2):c.542C>A (p.Ser181Tyr)
NM_003242.6(TGFBR2):c.544G>A (p.Val182Ile)
NM_003242.6(TGFBR2):c.547A>G (p.Ile183Val)
NM_003242.6(TGFBR2):c.565T>C (p.Tyr189His)
NM_003242.6(TGFBR2):c.56G>A (p.Arg19His) rs763085648
NM_003242.6(TGFBR2):c.56G>T (p.Arg19Leu) rs763085648
NM_003242.6(TGFBR2):c.58A>T (p.Ile20Phe)
NM_003242.6(TGFBR2):c.594T>A (p.Ser198Arg)
NM_003242.6(TGFBR2):c.619C>G (p.Arg207Gly)
NM_003242.6(TGFBR2):c.61G>T (p.Ala21Ser)
NM_003242.6(TGFBR2):c.625C>A (p.Leu209Ile)
NM_003242.6(TGFBR2):c.625C>T (p.Leu209Phe) rs1288771489
NM_003242.6(TGFBR2):c.628A>G (p.Met210Val)
NM_003242.6(TGFBR2):c.638G>A (p.Ser213Asn)
NM_003242.6(TGFBR2):c.645C>G (p.His215Gln) rs758827786
NM_003242.6(TGFBR2):c.671G>T (p.Arg224Leu)
NM_003242.6(TGFBR2):c.71T>C (p.Ile24Thr)
NM_003242.6(TGFBR2):c.735G>C (p.Glu245Asp)
NM_003242.6(TGFBR2):c.736C>T (p.Leu246=) rs886058305
NM_003242.6(TGFBR2):c.757G>A (p.Gly253Ser) rs1559466824
NM_003242.6(TGFBR2):c.779A>G (p.Lys260Arg)
NM_003242.6(TGFBR2):c.77C>T (p.Pro26Leu)
NM_003242.6(TGFBR2):c.7C>T (p.Arg3Trp)
NM_003242.6(TGFBR2):c.81C>G (p.His27Gln)
NM_003242.6(TGFBR2):c.835T>C (p.Phe279Leu) rs746824357
NM_003242.6(TGFBR2):c.877A>T (p.Ile293Phe)
NM_003242.6(TGFBR2):c.8G>A (p.Arg3Gln) rs780267559
NM_003242.6(TGFBR2):c.8G>C (p.Arg3Pro)
NM_003242.6(TGFBR2):c.907A>C (p.Asn303His) rs773932892
NM_003242.6(TGFBR2):c.908A>G (p.Asn303Ser) rs2125435026
NM_003242.6(TGFBR2):c.926C>T (p.Thr309Met)
NM_003242.6(TGFBR2):c.928G>A (p.Ala310Thr) rs1553630181
NM_003242.6(TGFBR2):c.928G>T (p.Ala310Ser) rs1553630181
NM_003242.6(TGFBR2):c.938G>C (p.Arg313Pro)
NM_003242.6(TGFBR2):c.938G>T (p.Arg313Leu) rs200361387
NM_003242.6(TGFBR2):c.967C>G (p.Leu323Val) rs781018006
NM_003242.6(TGFBR2):c.972C>G (p.Ile324Met)
NM_003242.6(TGFBR2):c.981C>G (p.Phe327Leu)
NM_003242.6(TGFBR2):c.98A>G (p.Asn33Ser) rs2125404654

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