ClinVar Miner

List of variants in gene TGFBR1 reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 212
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HGVS dbSNP
NM_004612.3(TGFBR1):c.344-74del rs193922675
NM_004612.3(TGFBR1):c.97+23_97+26dupGGCG rs886063221
NM_004612.4(TGFBR1):c.*1223A>G rs886063229
NM_004612.4(TGFBR1):c.*1250G>T rs886063230
NM_004612.4(TGFBR1):c.*1269T>G rs189032587
NM_004612.4(TGFBR1):c.*1368C>A rs886063231
NM_004612.4(TGFBR1):c.*1431G>T rs886063232
NM_004612.4(TGFBR1):c.*1687A>G rs886063233
NM_004612.4(TGFBR1):c.*1704G>T rs886063234
NM_004612.4(TGFBR1):c.*1772A>C rs201191009
NM_004612.4(TGFBR1):c.*1787T>C rs886063235
NM_004612.4(TGFBR1):c.*1924G>T rs886063236
NM_004612.4(TGFBR1):c.*1959G>T rs886063237
NM_004612.4(TGFBR1):c.*2081G>T rs200898127
NM_004612.4(TGFBR1):c.*2092G>T rs199545273
NM_004612.4(TGFBR1):c.*2095T>G rs201780012
NM_004612.4(TGFBR1):c.*2101_*2102insGT rs886063239
NM_004612.4(TGFBR1):c.*2103T>G rs7871490
NM_004612.4(TGFBR1):c.*2104_*2105insGT rs1554703244
NM_004612.4(TGFBR1):c.*2105dup rs200529894
NM_004612.4(TGFBR1):c.*2106G>T rs201054018
NM_004612.4(TGFBR1):c.*2106_*2108GTT[2] rs886063241
NM_004612.4(TGFBR1):c.*2279T>C rs886063242
NM_004612.4(TGFBR1):c.*2410C>T rs200722893
NM_004612.4(TGFBR1):c.*2547A>G rs886063243
NM_004612.4(TGFBR1):c.*2634_*2636TCT[1] rs886063244
NM_004612.4(TGFBR1):c.*2713G>T rs886063245
NM_004612.4(TGFBR1):c.*2768T>A rs886063246
NM_004612.4(TGFBR1):c.*2791G>A rs201846922
NM_004612.4(TGFBR1):c.*2799C>T rs200274678
NM_004612.4(TGFBR1):c.*2833G>A rs200520116
NM_004612.4(TGFBR1):c.*2880C>A rs886063247
NM_004612.4(TGFBR1):c.*2980G>T rs886063248
NM_004612.4(TGFBR1):c.*3056C>A rs886063249
NM_004612.4(TGFBR1):c.*309C>T rs886063226
NM_004612.4(TGFBR1):c.*311G>A rs200804500
NM_004612.4(TGFBR1):c.*3314A>G rs200374520
NM_004612.4(TGFBR1):c.*3317C>G rs201113438
NM_004612.4(TGFBR1):c.*3382T>G rs200080374
NM_004612.4(TGFBR1):c.*3432G>T rs886063251
NM_004612.4(TGFBR1):c.*3482C>G rs201952588
NM_004612.4(TGFBR1):c.*3567G>A rs886063252
NM_004612.4(TGFBR1):c.*3716T>C rs886063253
NM_004612.4(TGFBR1):c.*3790C>T rs201101442
NM_004612.4(TGFBR1):c.*3881G>T rs886063254
NM_004612.4(TGFBR1):c.*4055G>T rs886063255
NM_004612.4(TGFBR1):c.*4088G>T rs886063256
NM_004612.4(TGFBR1):c.*4147G>A rs570685518
NM_004612.4(TGFBR1):c.*4467C>A rs886063257
NM_004612.4(TGFBR1):c.*4793A>G rs77001090
NM_004612.4(TGFBR1):c.*4804dup rs561572489
NM_004612.4(TGFBR1):c.*512_*516del rs777186940
NM_004612.4(TGFBR1):c.*709C>T rs886063228
NM_004612.4(TGFBR1):c.*756C>A rs200926268
NM_004612.4(TGFBR1):c.-10C>G rs199624653
NM_004612.4(TGFBR1):c.-13T>C rs886063220
NM_004612.4(TGFBR1):c.-3A>G rs1170998539
NM_004612.4(TGFBR1):c.-43C>A rs886063219
NM_004612.4(TGFBR1):c.-4G>A rs1007933061
NM_004612.4(TGFBR1):c.1009A>G (p.Lys337Glu) rs113911127
NM_004612.4(TGFBR1):c.1013A>C (p.Asn338Thr) rs863223821
NM_004612.4(TGFBR1):c.1033G>A (p.Gly345Arg) rs1554701900
NM_004612.4(TGFBR1):c.1041C>G (p.Cys347Trp) rs886039015
NM_004612.4(TGFBR1):c.1058_1059insCAATA (p.Leu354fs) rs1060499908
NM_004612.4(TGFBR1):c.1093A>G (p.Ile365Val) rs863223823
NM_004612.4(TGFBR1):c.1110C>G (p.Asn370Lys) rs368402450
NM_004612.4(TGFBR1):c.1117G>A (p.Val373Met) rs1554701926
NM_004612.4(TGFBR1):c.1121G>A (p.Gly374Glu) rs1554701930
NM_004612.4(TGFBR1):c.1130+1G>A
NM_004612.4(TGFBR1):c.1135A>G (p.Met379Val) rs1554702207
NM_004612.4(TGFBR1):c.1136T>C (p.Met379Thr) rs886039004
NM_004612.4(TGFBR1):c.1141C>T (p.Pro381Ser) rs760555508
NM_004612.4(TGFBR1):c.1144G>A (p.Glu382Lys) rs863223824
NM_004612.4(TGFBR1):c.1180G>A (p.Glu394Lys) rs1564174278
NM_004612.4(TGFBR1):c.1205A>G (p.Tyr402Cys) rs762486367
NM_004612.4(TGFBR1):c.1216T>A (p.Leu406Ile) rs200062984
NM_004612.4(TGFBR1):c.1219G>T (p.Val407Leu) rs146549837
NM_004612.4(TGFBR1):c.1255G>A (p.Gly419Arg) rs863223827
NM_004612.4(TGFBR1):c.1277T>G (p.Leu426Arg) rs756570466
NM_004612.4(TGFBR1):c.1285T>C (p.Tyr429His) rs201745016
NM_004612.4(TGFBR1):c.1301C>G (p.Ser434Cys) rs886039078
NM_004612.4(TGFBR1):c.1301C>T (p.Ser434Phe) rs886039078
NM_004612.4(TGFBR1):c.1306C>G (p.Pro436Ala) rs863223835
NM_004612.4(TGFBR1):c.1322T>A (p.Met441Lys) rs1554702474
NM_004612.4(TGFBR1):c.1322T>G (p.Met441Arg) rs1554702474
NM_004612.4(TGFBR1):c.1336_1337TG[1] (p.Cys446_Glu447delinsTer) rs1554702481
NM_004612.4(TGFBR1):c.1346A>G (p.Lys449Arg) rs1564176059
NM_004612.4(TGFBR1):c.134A>G (p.Asn45Ser) rs387906696
NM_004612.4(TGFBR1):c.1415G>A (p.Arg472Lys) rs1554702716
NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser) rs141259922
NM_004612.4(TGFBR1):c.1438G>C (p.Ala480Pro)
NM_004612.4(TGFBR1):c.1443T>A (p.Ala481=) rs886063225
NM_004612.4(TGFBR1):c.1446G>T (p.Arg482Ser)
NM_004612.4(TGFBR1):c.1447C>T (p.Leu483Phe) rs1554702734
NM_004612.4(TGFBR1):c.1457T>G (p.Leu486Trp) rs886039176
NM_004612.4(TGFBR1):c.1459C>G (p.Arg487Gly)
NM_004612.4(TGFBR1):c.1465A>G (p.Lys489Glu) rs1554702748
NM_004612.4(TGFBR1):c.1487G>A (p.Ser496Asn) rs764733540
NM_004612.4(TGFBR1):c.149C>G (p.Thr50Arg)
NM_004612.4(TGFBR1):c.154G>C (p.Gly52Arg) rs587776865
NM_004612.4(TGFBR1):c.187G>A (p.Asp63Asn)
NM_004612.4(TGFBR1):c.191A>G (p.Lys64Arg) rs886042300
NM_004612.4(TGFBR1):c.199C>T (p.His67Tyr) rs766157497
NM_004612.4(TGFBR1):c.203A>G (p.Asn68Ser) rs727503469
NM_004612.4(TGFBR1):c.207C>T (p.Ser69=) rs145033378
NM_004612.4(TGFBR1):c.20C>T (p.Ala7Val) rs863223802
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu) rs111513627
NM_004612.4(TGFBR1):c.220G>A (p.Glu74Lys) rs998268148
NM_004612.4(TGFBR1):c.222A>C (p.Glu74Asp) rs201910738
NM_004612.4(TGFBR1):c.230T>G (p.Leu77Ter) rs1554698926
NM_004612.4(TGFBR1):c.23C>T (p.Pro8Leu) rs863223803
NM_004612.4(TGFBR1):c.24del (p.Arg9fs) rs1060499907
NM_004612.4(TGFBR1):c.290C>A (p.Thr97Lys) rs1554698939
NM_004612.4(TGFBR1):c.292A>T (p.Thr98Ser) rs780295872
NM_004612.4(TGFBR1):c.304A>G (p.Asn102Asp) rs769320006
NM_004612.4(TGFBR1):c.32G>A (p.Arg11Gln) rs886038980
NM_004612.4(TGFBR1):c.32G>C (p.Arg11Pro) rs886038980
NM_004612.4(TGFBR1):c.342T>A (p.Thr114=)
NM_004612.4(TGFBR1):c.343+3A>G rs374717754
NM_004612.4(TGFBR1):c.345A>G (p.Val115=) rs766347880
NM_004612.4(TGFBR1):c.35T>C (p.Leu12Pro) rs1057524279
NM_004612.4(TGFBR1):c.367C>T (p.Pro123Ser) rs1554699525
NM_004612.4(TGFBR1):c.368C>T (p.Pro123Leu) rs878854713
NM_004612.4(TGFBR1):c.400G>A (p.Val134Met) rs730880222
NM_004612.4(TGFBR1):c.409G>A (p.Val137Ile) rs745576967
NM_004612.4(TGFBR1):c.415A>G (p.Ile139Val) rs148176750
NM_004612.4(TGFBR1):c.419C>T (p.Ser140Leu) rs1057524105
NM_004612.4(TGFBR1):c.424A>G (p.Met142Val) rs1029455360
NM_004612.4(TGFBR1):c.428T>A (p.Leu143Ter) rs863223831
NM_004612.4(TGFBR1):c.434T>G (p.Val145Gly) rs775267361
NM_004612.4(TGFBR1):c.449A>G (p.Asn150Ser) rs945370154
NM_004612.4(TGFBR1):c.451C>T (p.Arg151Cys)
NM_004612.4(TGFBR1):c.466C>T (p.His156Tyr)
NM_004612.4(TGFBR1):c.46G>A (p.Val16Met) rs1021523079
NM_004612.4(TGFBR1):c.479A>G (p.Asn160Ser) rs767785290
NM_004612.4(TGFBR1):c.490C>T (p.Pro164Ser) rs886063222
NM_004612.4(TGFBR1):c.49C>T (p.Leu17=) rs878854714
NM_004612.4(TGFBR1):c.500A>C (p.Asp167Ala) rs1060502044
NM_004612.4(TGFBR1):c.502C>T (p.Arg168Cys) rs1057519144
NM_004612.4(TGFBR1):c.503G>A (p.Arg168His) rs777965779
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=) rs190878719
NM_004612.4(TGFBR1):c.52_54GCG[10] (p.Ala26dup) rs11466445
NM_004612.4(TGFBR1):c.52_54GCG[11] (p.Ala25_Ala26dup) rs11466445
NM_004612.4(TGFBR1):c.52_54GCG[12] (p.Ala24_Ala26dup) rs11466445
NM_004612.4(TGFBR1):c.52_54GCG[13] (p.Ala23_Ala26dup) rs11466445
NM_004612.4(TGFBR1):c.52_54GCG[4] (p.Ala22_Ala26del) rs11466445
NM_004612.4(TGFBR1):c.52_54GCG[6] (p.Ala24_Ala26del) rs11466445
NM_004612.4(TGFBR1):c.563G>T (p.Gly188Val) rs1554699638
NM_004612.4(TGFBR1):c.575-5T>G
NM_004612.4(TGFBR1):c.586C>T (p.Leu196Phe) rs863223807
NM_004612.4(TGFBR1):c.587T>G (p.Leu196Arg) rs886038998
NM_004612.4(TGFBR1):c.596G>A (p.Arg199Lys) rs397517032
NM_004612.4(TGFBR1):c.605C>T (p.Ala202Val) rs1564161322
NM_004612.4(TGFBR1):c.611C>T (p.Thr204Ile) rs886039068
NM_004612.4(TGFBR1):c.613A>G (p.Ile205Val) rs200018073
NM_004612.4(TGFBR1):c.623A>C (p.Gln208Pro)
NM_004612.4(TGFBR1):c.62C>T (p.Ala21Val) rs1554695407
NM_004612.4(TGFBR1):c.640G>T (p.Gly214Cys) rs727503470
NM_004612.4(TGFBR1):c.648T>G (p.Phe216Leu) rs863223809
NM_004612.4(TGFBR1):c.655G>T (p.Val219Phe) rs863223810
NM_004612.4(TGFBR1):c.666A>G (p.Gly222=) rs886063223
NM_004612.4(TGFBR1):c.679G>A (p.Glu227Lys) rs1060502042
NM_004612.4(TGFBR1):c.700T>C (p.Phe234Leu) rs1060502046
NM_004612.4(TGFBR1):c.702_704CTC[1] (p.Ser236del) rs863223830
NM_004612.4(TGFBR1):c.704C>T (p.Ser235Phe) rs1554700632
NM_004612.4(TGFBR1):c.706T>G (p.Ser236Ala) rs1554700634
NM_004612.4(TGFBR1):c.707C>T (p.Ser236Phe) rs863223812
NM_004612.4(TGFBR1):c.709A>G (p.Arg237Gly) rs863223813
NM_004612.4(TGFBR1):c.718C>T (p.Arg240Cys)
NM_004612.4(TGFBR1):c.71C>T (p.Ala24Val)
NM_004612.4(TGFBR1):c.71_75del (p.Ala24fs) rs886038783
NM_004612.4(TGFBR1):c.725G>T (p.Trp242Leu) rs1564161816
NM_004612.4(TGFBR1):c.731G>C (p.Arg244Pro) rs1329974247
NM_004612.4(TGFBR1):c.733G>A (p.Glu245Lys) rs1057524497
NM_004612.4(TGFBR1):c.734A>C (p.Glu245Ala) rs1554700650
NM_004612.4(TGFBR1):c.752_806-1129del
NM_004612.4(TGFBR1):c.766dup (p.His256fs) rs1554700665
NM_004612.4(TGFBR1):c.767A>G (p.His256Arg) rs1554700666
NM_004612.4(TGFBR1):c.779T>A (p.Leu260Gln) rs397517033
NM_004612.4(TGFBR1):c.796G>A (p.Asp266Asn) rs1060502043
NM_004612.4(TGFBR1):c.799A>G (p.Asn267Asp) rs727503471
NM_004612.4(TGFBR1):c.805G>A (p.Asp269Asn) rs1564162124
NM_004612.4(TGFBR1):c.809A>G (p.Asn270Ser) rs201475375
NM_004612.4(TGFBR1):c.820A>C (p.Thr274Pro) rs863223816
NM_004612.4(TGFBR1):c.828C>G (p.Leu276=) rs886063224
NM_004612.4(TGFBR1):c.835G>C (p.Val279Leu) rs112300506
NM_004612.4(TGFBR1):c.844T>C (p.Tyr282His) rs755827803
NM_004612.4(TGFBR1):c.847_849del (p.His283del)
NM_004612.4(TGFBR1):c.848A>C (p.His283Pro) rs1064796037
NM_004612.4(TGFBR1):c.848A>G (p.His283Arg) rs1064796037
NM_004612.4(TGFBR1):c.854A>G (p.His285Arg)
NM_004612.4(TGFBR1):c.860C>T (p.Ser287Phe) rs863223832
NM_004612.4(TGFBR1):c.873_876del (p.Asp290_Tyr291insTer) rs1554701447
NM_004612.4(TGFBR1):c.889G>A (p.Val297Ile) rs757284158
NM_004612.4(TGFBR1):c.897G>A (p.Val299=) rs369881419
NM_004612.4(TGFBR1):c.89G>T (p.Gly30Val) rs1381354900
NM_004612.4(TGFBR1):c.923C>T (p.Ser308Phe) rs1564168346
NM_004612.4(TGFBR1):c.929C>T (p.Ala310Val) rs202010361
NM_004612.4(TGFBR1):c.930G>A (p.Ala310=) rs139090459
NM_004612.4(TGFBR1):c.935G>A (p.Gly312Asp) rs869025535
NM_004612.4(TGFBR1):c.944A>G (p.His315Arg) rs1060502045
NM_004612.4(TGFBR1):c.94A>G (p.Thr32Ala)
NM_004612.4(TGFBR1):c.952A>T (p.Met318Leu)
NM_004612.4(TGFBR1):c.959T>C (p.Ile320Thr) rs1554701491
NM_004612.4(TGFBR1):c.965G>A (p.Gly322Asp) rs863223833
NM_004612.4(TGFBR1):c.97+14C>T rs1198082830
NM_004612.4(TGFBR1):c.973+1G>A rs863223818
NM_004612.4(TGFBR1):c.977A>G (p.Lys326Arg) rs863223834
NM_004612.4(TGFBR1):c.978G>C (p.Lys326Asn) rs863223820
NM_004612.4(TGFBR1):c.98-4C>A rs1554698879
NM_004612.4(TGFBR1):c.98C>T (p.Ala33Val) rs1554698880
NM_004612.4(TGFBR1):c.994_999del (p.Arg332_Asp333del) rs727504383

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