ClinVar Miner

List of variants in gene TGFBR2 reported as uncertain significance

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Gene type:
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Total variants: 189
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HGVS dbSNP
GRCh38/hg38 3p24.1(chr3:30623003-30656356)x3
GRCh38/hg38 3p24.1(chr3:30623003-30666517)x1
GRCh38/hg38 3p24.1(chr3:30628928-30656356)x1
GRCh38/hg38 3p24.1(chr3:30638613-30656356)x1
NM_001024847.2(TGFBR2):c.-307C>T rs749340193
NM_001024847.2(TGFBR2):c.118G>A (p.Asp40Asn) rs61732532
NM_001024847.2(TGFBR2):c.133C>G (p.Pro45Ala) rs113474008
NM_001024847.2(TGFBR2):c.146G>A (p.Arg49Lys) rs781529108
NM_001024847.2(TGFBR2):c.166C>A (p.His56Asn) rs138262219
NM_003242.5(TGFBR2):c.-344C>A rs886058298
NM_003242.5(TGFBR2):c.-371A>C rs886058297
NM_003242.5(TGFBR2):c.1397-157_1397-153delTCTTA rs1279882821
NM_003242.6(TGFBR2):c.*1201C>T rs886058318
NM_003242.6(TGFBR2):c.*1211A>T rs886058319
NM_003242.6(TGFBR2):c.*1326G>A rs886058320
NM_003242.6(TGFBR2):c.*1572A>G rs878857301
NM_003242.6(TGFBR2):c.*1842G>T rs886058321
NM_003242.6(TGFBR2):c.*1859G>T rs886058322
NM_003242.6(TGFBR2):c.*1860C>A rs886058323
NM_003242.6(TGFBR2):c.*1887G>T rs886058324
NM_003242.6(TGFBR2):c.*1998G>A rs886058325
NM_003242.6(TGFBR2):c.*226C>A rs886058307
NM_003242.6(TGFBR2):c.*2332A>C rs886058326
NM_003242.6(TGFBR2):c.*2335T>A rs886058327
NM_003242.6(TGFBR2):c.*2340T>C rs886058328
NM_003242.6(TGFBR2):c.*2425C>A rs886058329
NM_003242.6(TGFBR2):c.*2437T>A rs886058330
NM_003242.6(TGFBR2):c.*312_*313AT[11] rs4016180
NM_003242.6(TGFBR2):c.*328A>C rs886058309
NM_003242.6(TGFBR2):c.*330_*331del rs561991238
NM_003242.6(TGFBR2):c.*33A>G rs886058306
NM_003242.6(TGFBR2):c.*598G>T rs886058311
NM_003242.6(TGFBR2):c.*704A>G rs886058312
NM_003242.6(TGFBR2):c.*713G>T rs886058313
NM_003242.6(TGFBR2):c.*742C>T rs17026328
NM_003242.6(TGFBR2):c.*793G>T rs886058314
NM_003242.6(TGFBR2):c.*799A>G rs886058315
NM_003242.6(TGFBR2):c.*86A>G rs540602629
NM_003242.6(TGFBR2):c.*989G>A rs886058316
NM_003242.6(TGFBR2):c.*997T>A rs886058317
NM_003242.6(TGFBR2):c.-117G>A rs886058302
NM_003242.6(TGFBR2):c.-18C>A rs753369354
NM_003242.6(TGFBR2):c.-193G>A rs886058301
NM_003242.6(TGFBR2):c.-228C>A rs886058300
NM_003242.6(TGFBR2):c.-249T>G rs886058299
NM_003242.6(TGFBR2):c.-27G>C rs1469986980
NM_003242.6(TGFBR2):c.-8G>A rs727504344
NM_003242.6(TGFBR2):c.1006T>G (p.Tyr336Asp) rs104893812
NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp) rs761991787
NM_003242.6(TGFBR2):c.1016G>C (p.Arg339Pro) rs727503473
NM_003242.6(TGFBR2):c.1016G>T (p.Arg339Leu) rs727503473
NM_003242.6(TGFBR2):c.1043G>A (p.Arg348His) rs369450067
NM_003242.6(TGFBR2):c.1058C>T (p.Ser353Phe) rs1553630235
NM_003242.6(TGFBR2):c.1063G>A (p.Ala355Thr) rs104893813
NM_003242.6(TGFBR2):c.1078C>G (p.His360Asp)
NM_003242.6(TGFBR2):c.1082_1084del (p.Leu361del) rs727503474
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192
NM_003242.6(TGFBR2):c.1121C>T (p.Pro374Leu) rs1057524399
NM_003242.6(TGFBR2):c.1126G>A (p.Val376Met) rs755967723
NM_003242.6(TGFBR2):c.1130A>G (p.His377Arg) rs1553630274
NM_003242.6(TGFBR2):c.1134G>T (p.Arg378Ser)
NM_003242.6(TGFBR2):c.1135_1140del (p.Asp379_Leu380del) rs1553630282
NM_003242.6(TGFBR2):c.1151A>G (p.Asn384Ser) rs193922660
NM_003242.6(TGFBR2):c.1152T>A (p.Asn384Lys) rs193922661
NM_003242.6(TGFBR2):c.1153A>G (p.Ile385Val) rs137908708
NM_003242.6(TGFBR2):c.1156C>T (p.Leu386Phe)
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu) rs35766612
NM_003242.6(TGFBR2):c.115A>T (p.Thr39Ser) rs780280433
NM_003242.6(TGFBR2):c.1163A>G (p.Lys388Arg) rs193922662
NM_003242.6(TGFBR2):c.116C>A (p.Thr39Asn) rs146277116
NM_003242.6(TGFBR2):c.1181G>A (p.Cys394Tyr) rs1553630289
NM_003242.6(TGFBR2):c.1185G>C (p.Leu395=) rs193922663
NM_003242.6(TGFBR2):c.1189G>A (p.Asp397Asn) rs863223845
NM_003242.6(TGFBR2):c.1189G>T (p.Asp397Tyr)
NM_003242.6(TGFBR2):c.118G>A (p.Asp40Asn) rs397516837
NM_003242.6(TGFBR2):c.1190A>G (p.Asp397Gly) rs863223846
NM_003242.6(TGFBR2):c.1202C>T (p.Ser401Phe)
NM_003242.6(TGFBR2):c.1207C>T (p.Arg403Cys) rs886038960
NM_003242.6(TGFBR2):c.1215C>G (p.Asp405Glu)
NM_003242.6(TGFBR2):c.1217C>T (p.Pro406Leu) rs748480163
NM_003242.6(TGFBR2):c.1219A>G (p.Thr407Ala) rs1559467311
NM_003242.6(TGFBR2):c.1238T>A (p.Leu413Gln) rs1559467328
NM_003242.6(TGFBR2):c.1246A>G (p.Ser416Gly) rs1060501983
NM_003242.6(TGFBR2):c.1254+6T>A rs1026852885
NM_003242.6(TGFBR2):c.1254+8A>G rs200630803
NM_003242.6(TGFBR2):c.1267_1269dup (p.Arg423dup)
NM_003242.6(TGFBR2):c.1270T>C (p.Tyr424His) rs1559467821
NM_003242.6(TGFBR2):c.1273A>C (p.Met425Leu)
NM_003242.6(TGFBR2):c.1274T>C (p.Met425Thr) rs1553630438
NM_003242.6(TGFBR2):c.1282G>C (p.Glu428Gln) rs397516838
NM_003242.6(TGFBR2):c.1301T>C (p.Met434Thr)
NM_003242.6(TGFBR2):c.1334C>A (p.Thr445Asn) rs886038936
NM_003242.6(TGFBR2):c.1340T>A (p.Val447Asp)
NM_003242.6(TGFBR2):c.136A>T (p.Lys46Ter) rs1553627148
NM_003242.6(TGFBR2):c.1408T>A (p.Tyr470Asn)
NM_003242.6(TGFBR2):c.1410T>G (p.Tyr470Ter) rs1553631696
NM_003242.6(TGFBR2):c.1418C>A (p.Pro473Gln) rs397516839
NM_003242.6(TGFBR2):c.1418C>T (p.Pro473Leu) rs397516839
NM_003242.6(TGFBR2):c.1436G>A (p.Arg479Gln) rs1553631704
NM_003242.6(TGFBR2):c.1441C>T (p.His481Tyr) rs762756916
NM_003242.6(TGFBR2):c.1459A>C (p.Met487Leu)
NM_003242.6(TGFBR2):c.1470C>T (p.Asn490=) rs141113059
NM_003242.6(TGFBR2):c.1471G>A (p.Val491Met) rs754176932
NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter) rs863223852
NM_003242.6(TGFBR2):c.1492C>G (p.Pro498Ala) rs1553631720
NM_003242.6(TGFBR2):c.1510T>C (p.Trp504Arg)
NM_003242.6(TGFBR2):c.151T>C (p.Cys51Arg) rs1559456531
NM_003242.6(TGFBR2):c.1524+7A>G rs1553631728
NM_003242.6(TGFBR2):c.1525-10C>G rs747069454
NM_003242.6(TGFBR2):c.1525-6C>G rs748388518
NM_003242.6(TGFBR2):c.1525-7G>A rs377499122
NM_003242.6(TGFBR2):c.1525G>A (p.Gly509Ser)
NM_003242.6(TGFBR2):c.1526G>T (p.Gly509Val) rs863223853
NM_003242.6(TGFBR2):c.1537del (p.Val513fs)
NM_003242.6(TGFBR2):c.1546A>T (p.Thr516Ser) rs370708687
NM_003242.6(TGFBR2):c.1547C>T (p.Thr516Met) rs149847376
NM_003242.6(TGFBR2):c.1549T>A (p.Leu517Met) rs1559473413
NM_003242.6(TGFBR2):c.1563G>A (p.Trp521Ter) rs1553631968
NM_003242.6(TGFBR2):c.1564G>A (p.Asp522Asn) rs863223854
NM_003242.6(TGFBR2):c.1565A>C (p.Asp522Ala) rs886038768
NM_003242.6(TGFBR2):c.1565A>T (p.Asp522Val) rs886038768
NM_003242.6(TGFBR2):c.1570G>T (p.Asp524Tyr) rs727504421
NM_003242.6(TGFBR2):c.1576G>C (p.Glu526Gln) rs121918714
NM_003242.6(TGFBR2):c.1580C>T (p.Ala527Val) rs727503476
NM_003242.6(TGFBR2):c.15_25dup (p.Leu9fs) rs1559443652
NM_003242.6(TGFBR2):c.1643C>T (p.Ser548Leu) rs755070814
NM_003242.6(TGFBR2):c.1645G>T (p.Gly549Trp) rs748418894
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr) rs112215250
NM_003242.6(TGFBR2):c.1680C>G (p.Asp560Glu) rs376815143
NM_003242.6(TGFBR2):c.1682G>C (p.Gly561Ala) rs1559473531
NM_003242.6(TGFBR2):c.1697C>G (p.Thr566Ser)
NM_003242.6(TGFBR2):c.1701A>G (p.Lys567=) rs763371077
NM_003242.6(TGFBR2):c.175T>C (p.Ser59Pro) rs1559456557
NM_003242.6(TGFBR2):c.202A>C (p.Met68Leu) rs1060501985
NM_003242.6(TGFBR2):c.215G>A (p.Ser72Asn) rs764941621
NM_003242.6(TGFBR2):c.264-5T>G rs1315800025
NM_003242.6(TGFBR2):c.272A>C (p.Asn91Thr) rs1559458806
NM_003242.6(TGFBR2):c.296C>T (p.Thr99Ile) rs863223837
NM_003242.6(TGFBR2):c.326A>T (p.His109Leu) rs1553627759
NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu) rs768385200
NM_003242.6(TGFBR2):c.383dup (p.Pro129fs)
NM_003242.6(TGFBR2):c.394A>G (p.Thr132Ala) rs146497045
NM_003242.6(TGFBR2):c.412T>G (p.Cys138Gly) rs863223838
NM_003242.6(TGFBR2):c.413G>A (p.Cys138Tyr) rs1559458957
NM_003242.6(TGFBR2):c.43G>T (p.Val15Phe) rs1182907194
NM_003242.6(TGFBR2):c.448T>C (p.Ser150Pro) rs1346274891
NM_003242.6(TGFBR2):c.454G>A (p.Glu152Lys) rs778675253
NM_003242.6(TGFBR2):c.455-2del rs863223855
NM_003242.6(TGFBR2):c.464C>T (p.Thr155Ile) rs727504406
NM_003242.6(TGFBR2):c.472C>T (p.Pro158Ser) rs886058303
NM_003242.6(TGFBR2):c.4G>T (p.Gly2Cys) rs565502802
NM_003242.6(TGFBR2):c.500T>C (p.Val167Ala) rs779052721
NM_003242.6(TGFBR2):c.511A>G (p.Ser171Gly) rs767581059
NM_003242.6(TGFBR2):c.533T>A (p.Val178Asp) rs1553630079
NM_003242.6(TGFBR2):c.551T>A (p.Ile184Asn) rs863223839
NM_003242.6(TGFBR2):c.556T>A (p.Phe186Ile) rs368346624
NM_003242.6(TGFBR2):c.569G>A (p.Arg190His) rs780542125
NM_003242.6(TGFBR2):c.617C>T (p.Thr206Met) rs150022335
NM_003242.6(TGFBR2):c.620G>A (p.Arg207Gln) rs371209879
NM_003242.6(TGFBR2):c.621G>A (p.Arg207=) rs886058304
NM_003242.6(TGFBR2):c.645C>G (p.His215Gln) rs758827786
NM_003242.6(TGFBR2):c.649G>C (p.Ala217Pro) rs149141477
NM_003242.6(TGFBR2):c.659T>C (p.Leu220Pro) rs1553630112
NM_003242.6(TGFBR2):c.671G>A (p.Arg224His) rs112465572
NM_003242.6(TGFBR2):c.673T>C (p.Ser225Pro)
NM_003242.6(TGFBR2):c.683G>T (p.Ser228Ile) rs1559466786
NM_003242.6(TGFBR2):c.690G>A (p.Thr230=) rs201560560
NM_003242.6(TGFBR2):c.696C>T (p.Ala232=) rs768508812
NM_003242.6(TGFBR2):c.701A>T (p.Asn234Ile) rs863223840
NM_003242.6(TGFBR2):c.736C>T (p.Leu246=) rs886058305
NM_003242.6(TGFBR2):c.760C>T (p.Arg254Cys) rs863223856
NM_003242.6(TGFBR2):c.773T>A (p.Val258Asp) rs869025536
NM_003242.6(TGFBR2):c.832A>T (p.Ile278Phe) rs1559466871
NM_003242.6(TGFBR2):c.845_853del (p.Glu282_Tyr284del) rs1085307498
NM_003242.6(TGFBR2):c.859T>C (p.Trp287Arg) rs727503472
NM_003242.6(TGFBR2):c.869A>G (p.Glu290Gly)
NM_003242.6(TGFBR2):c.902A>G (p.His301Arg) rs863223857
NM_003242.6(TGFBR2):c.907A>C (p.Asn303His)
NM_003242.6(TGFBR2):c.913C>T (p.Leu305Phe) rs1553630171
NM_003242.6(TGFBR2):c.914T>G (p.Leu305Arg) rs1553630174
NM_003242.6(TGFBR2):c.928G>A (p.Ala310Thr) rs1553630181
NM_003242.6(TGFBR2):c.934G>A (p.Glu312Lys) rs397516841
NM_003242.6(TGFBR2):c.938G>A (p.Arg313Gln)
NM_003242.6(TGFBR2):c.95-3C>A rs375330013
NM_003242.6(TGFBR2):c.962A>G (p.Tyr321Cys) rs1553630191
NM_003242.6(TGFBR2):c.964T>G (p.Trp322Gly) rs863223858
NM_003242.6(TGFBR2):c.967C>G (p.Leu323Val) rs781018006
NM_003242.6(TGFBR2):c.985G>A (p.Ala329Thr) rs148665451

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