ClinVar Miner

List of variants in gene TGFBR1 reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 234
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HGVS dbSNP gnomAD frequency
NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser) rs141259922 0.00036
NM_004612.4(TGFBR1):c.1210A>G (p.Met404Val) rs143435050 0.00008
NM_004612.4(TGFBR1):c.1285T>C (p.Tyr429His) rs201745016 0.00007
NM_004612.4(TGFBR1):c.1141C>T (p.Pro381Ser) rs760555508 0.00006
NM_004612.4(TGFBR1):c.1301C>G (p.Ser434Cys) rs886039078 0.00006
NM_004612.4(TGFBR1):c.1040G>C (p.Cys347Ser) rs113786548 0.00005
NM_004612.4(TGFBR1):c.929C>T (p.Ala310Val) rs202010361 0.00005
NM_004612.4(TGFBR1):c.134A>G (p.Asn45Ser) rs387906696 0.00003
NM_004612.4(TGFBR1):c.56C>T (p.Ala19Val) rs1217107691 0.00003
NM_004612.4(TGFBR1):c.926C>T (p.Thr309Met) rs200518416 0.00003
NM_004612.4(TGFBR1):c.292A>T (p.Thr98Ser) rs780295872 0.00002
NM_004612.4(TGFBR1):c.343+3A>G rs374717754 0.00002
NM_004612.4(TGFBR1):c.613A>G (p.Ile205Val) rs200018073 0.00002
NM_004612.4(TGFBR1):c.71C>T (p.Ala24Val) rs992252059 0.00002
NM_004612.4(TGFBR1):c.1138G>C (p.Ala380Pro) rs746666082 0.00001
NM_004612.4(TGFBR1):c.1211T>C (p.Met404Thr) rs1241201708 0.00001
NM_004612.4(TGFBR1):c.1219G>T (p.Val407Leu) rs146549837 0.00001
NM_004612.4(TGFBR1):c.1256-3C>T rs755431191 0.00001
NM_004612.4(TGFBR1):c.1357A>G (p.Asn453Asp) rs1827844869 0.00001
NM_004612.4(TGFBR1):c.1386+6T>C rs1375191528 0.00001
NM_004612.4(TGFBR1):c.1425G>T (p.Trp475Cys) rs767589799 0.00001
NM_004612.4(TGFBR1):c.1435G>A (p.Gly479Arg) rs377194685 0.00001
NM_004612.4(TGFBR1):c.187G>A (p.Asp63Asn) rs200779997 0.00001
NM_004612.4(TGFBR1):c.220G>A (p.Glu74Lys) rs998268148 0.00001
NM_004612.4(TGFBR1):c.304A>G (p.Asn102Asp) rs769320006 0.00001
NM_004612.4(TGFBR1):c.376C>G (p.Leu126Val) rs756586874 0.00001
NM_004612.4(TGFBR1):c.400G>A (p.Val134Met) rs730880222 0.00001
NM_004612.4(TGFBR1):c.434T>G (p.Val145Gly) rs775267361 0.00001
NM_004612.4(TGFBR1):c.451C>T (p.Arg151Cys) rs776680716 0.00001
NM_004612.4(TGFBR1):c.502C>T (p.Arg168Cys) rs1057519144 0.00001
NM_004612.4(TGFBR1):c.508T>G (p.Phe170Val) rs1827278456 0.00001
NM_004612.4(TGFBR1):c.527C>T (p.Thr176Met) rs745324433 0.00001
NM_004612.4(TGFBR1):c.52G>A (p.Ala18Thr) rs1243596219 0.00001
NM_004612.4(TGFBR1):c.714A>C (p.Glu238Asp) rs1827490717 0.00001
NM_004612.4(TGFBR1):c.718C>T (p.Arg240Cys) rs775429965 0.00001
NM_004612.4(TGFBR1):c.883T>A (p.Tyr295Asn) rs200560562 0.00001
NM_004612.4(TGFBR1):c.889G>A (p.Val297Ile) rs757284158 0.00001
NM_004612.4(TGFBR1):c.88G>C (p.Gly30Arg) rs1826374374 0.00001
NM_004612.4(TGFBR1):c.89G>T (p.Gly30Val) rs1381354900 0.00001
NM_004612.4(TGFBR1):c.977A>G (p.Lys326Arg) rs863223834 0.00001
NC_000009.11:g.(?_101900131)_(101900381_?)dup
NC_000009.11:g.(?_101900318)_(101903694_?)del
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.1048G>T (p.Ala350Ser) rs1827740730
NM_004612.4(TGFBR1):c.1057G>A (p.Gly353Arg)
NM_004612.4(TGFBR1):c.1063G>C (p.Ala355Pro)
NM_004612.4(TGFBR1):c.1091C>T (p.Thr364Ile) rs201050937
NM_004612.4(TGFBR1):c.1117G>A (p.Val373Met) rs1554701926
NM_004612.4(TGFBR1):c.1131-3T>C rs2118826404
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.1138G>T (p.Ala380Ser) rs746666082
NM_004612.4(TGFBR1):c.1144G>A (p.Glu382Lys) rs863223824
NM_004612.4(TGFBR1):c.1153G>A (p.Asp385Asn)
NM_004612.4(TGFBR1):c.115C>T (p.His39Tyr)
NM_004612.4(TGFBR1):c.1165A>G (p.Asn389Asp)
NM_004612.4(TGFBR1):c.117C>A (p.His39Gln)
NM_004612.4(TGFBR1):c.1180G>A (p.Glu394Lys) rs1564174278
NM_004612.4(TGFBR1):c.1193G>A (p.Arg398His)
NM_004612.4(TGFBR1):c.1208C>G (p.Ala403Gly)
NM_004612.4(TGFBR1):c.1216T>A (p.Leu406Ile) rs200062984
NM_004612.4(TGFBR1):c.1222T>A (p.Phe408Ile) rs1827803560
NM_004612.4(TGFBR1):c.1229A>G (p.Glu410Gly) rs1827803661
NM_004612.4(TGFBR1):c.1231A>G (p.Ile411Val) rs1554702248
NM_004612.4(TGFBR1):c.1268A>G (p.Asp423Gly) rs2118839113
NM_004612.4(TGFBR1):c.1280C>G (p.Pro427Arg)
NM_004612.4(TGFBR1):c.1286A>G (p.Tyr429Cys) rs1827840874
NM_004612.4(TGFBR1):c.1294G>C (p.Val432Leu) rs2118839576
NM_004612.4(TGFBR1):c.1298C>T (p.Pro433Leu)
NM_004612.4(TGFBR1):c.1301C>T (p.Ser434Phe) rs886039078
NM_004612.4(TGFBR1):c.1307C>A (p.Pro436Gln) rs1131691342
NM_004612.4(TGFBR1):c.1307C>T (p.Pro436Leu) rs1131691342
NM_004612.4(TGFBR1):c.1310C>T (p.Ser437Leu) rs1827842067
NM_004612.4(TGFBR1):c.1321A>C (p.Met441Leu)
NM_004612.4(TGFBR1):c.1322T>G (p.Met441Arg) rs1554702474
NM_004612.4(TGFBR1):c.1342dup (p.Gln448fs) rs1827843537
NM_004612.4(TGFBR1):c.1346A>G (p.Lys449Arg) rs1564176059
NM_004612.4(TGFBR1):c.1348_1352del (p.Leu450fs)
NM_004612.4(TGFBR1):c.1351A>G (p.Arg451Gly) rs2118840572
NM_004612.4(TGFBR1):c.1355C>G (p.Pro452Arg) rs1827844675
NM_004612.4(TGFBR1):c.1385A>G (p.Glu462Gly) rs2118841118
NM_004612.4(TGFBR1):c.1386+6del
NM_004612.4(TGFBR1):c.1387G>A (p.Ala463Thr)
NM_004612.4(TGFBR1):c.1402G>A (p.Ala468Thr)
NM_004612.4(TGFBR1):c.1408A>G (p.Ile470Val)
NM_004612.4(TGFBR1):c.1415G>A (p.Arg472Lys) rs1554702716
NM_004612.4(TGFBR1):c.1421G>A (p.Cys474Tyr) rs1827899415
NM_004612.4(TGFBR1):c.1424G>C (p.Trp475Ser)
NM_004612.4(TGFBR1):c.1438G>A (p.Ala480Thr)
NM_004612.4(TGFBR1):c.1438G>C (p.Ala480Pro) rs925777307
NM_004612.4(TGFBR1):c.1446G>T (p.Arg482Ser) rs1588598651
NM_004612.4(TGFBR1):c.1447C>T (p.Leu483Phe) rs1554702734
NM_004612.4(TGFBR1):c.1448T>G (p.Leu483Arg) rs2118857318
NM_004612.4(TGFBR1):c.1449dup (p.Thr484fs)
NM_004612.4(TGFBR1):c.1459C>G (p.Arg487Gly) rs111426349
NM_004612.4(TGFBR1):c.1465A>G (p.Lys489Glu) rs1554702748
NM_004612.4(TGFBR1):c.1474T>A (p.Leu492Ile) rs2118858959
NM_004612.4(TGFBR1):c.1475_1477del (p.Leu492del)
NM_004612.4(TGFBR1):c.1483C>T (p.Leu495Phe)
NM_004612.4(TGFBR1):c.149C>G (p.Thr50Arg) rs1588576221
NM_004612.4(TGFBR1):c.162C>T (p.Cys54=)
NM_004612.4(TGFBR1):c.170C>G (p.Ser57Cys)
NM_004612.4(TGFBR1):c.176C>T (p.Thr59Ile)
NM_004612.4(TGFBR1):c.180G>C (p.Glu60Asp) rs1171355842
NM_004612.4(TGFBR1):c.191A>G (p.Lys64Arg) rs886042300
NM_004612.4(TGFBR1):c.203A>G (p.Asn68Ser) rs727503469
NM_004612.4(TGFBR1):c.239G>A (p.Arg80Gln) rs1368326650
NM_004612.4(TGFBR1):c.248C>T (p.Pro83Leu) rs757374917
NM_004612.4(TGFBR1):c.257G>A (p.Cys86Tyr) rs2118570305
NM_004612.4(TGFBR1):c.281C>G (p.Ser94Cys)
NM_004612.4(TGFBR1):c.283G>A (p.Val95Met) rs1827129569
NM_004612.4(TGFBR1):c.304A>C (p.Asn102His)
NM_004612.4(TGFBR1):c.305A>G (p.Asn102Ser)
NM_004612.4(TGFBR1):c.307C>G (p.Gln103Glu) rs1827131236
NM_004612.4(TGFBR1):c.320A>G (p.Asn107Ser)
NM_004612.4(TGFBR1):c.331C>G (p.Leu111Val) rs1244225435
NM_004612.4(TGFBR1):c.331C>T (p.Leu111Phe)
NM_004612.4(TGFBR1):c.337A>G (p.Thr113Ala) rs762573778
NM_004612.4(TGFBR1):c.342T>A (p.Thr114=) rs371415976
NM_004612.4(TGFBR1):c.343+5G>C rs2118576878
NM_004612.4(TGFBR1):c.344-13G>A rs1300742771
NM_004612.4(TGFBR1):c.346A>G (p.Lys116Glu) rs1827266142
NM_004612.4(TGFBR1):c.359G>A (p.Gly120Asp) rs1827267269
NM_004612.4(TGFBR1):c.368C>T (p.Pro123Leu) rs878854713
NM_004612.4(TGFBR1):c.37CTC[4] (p.Leu15_Val16insLeu)
NM_004612.4(TGFBR1):c.392C>G (p.Ala131Gly)
NM_004612.4(TGFBR1):c.398C>T (p.Pro133Leu) rs1827269407
NM_004612.4(TGFBR1):c.400G>C (p.Val134Leu)
NM_004612.4(TGFBR1):c.409G>A (p.Val137Ile) rs745576967
NM_004612.4(TGFBR1):c.410T>C (p.Val137Ala)
NM_004612.4(TGFBR1):c.419C>T (p.Ser140Leu) rs1057524105
NM_004612.4(TGFBR1):c.41T>C (p.Leu14Pro) rs1826371375
NM_004612.4(TGFBR1):c.424A>T (p.Met142Leu) rs1029455360
NM_004612.4(TGFBR1):c.426G>A (p.Met142Ile)
NM_004612.4(TGFBR1):c.430A>G (p.Met144Val) rs1827272468
NM_004612.4(TGFBR1):c.43C>T (p.Leu15Phe)
NM_004612.4(TGFBR1):c.445C>G (p.His149Asp)
NM_004612.4(TGFBR1):c.449A>G (p.Asn150Ser) rs945370154
NM_004612.4(TGFBR1):c.460A>G (p.Ile154Val)
NM_004612.4(TGFBR1):c.463C>G (p.His155Asp) rs751679796
NM_004612.4(TGFBR1):c.500A>C (p.Asp167Ala) rs1060502044
NM_004612.4(TGFBR1):c.52GCG[11] (p.Ala25_Ala26dup) rs11466445
NM_004612.4(TGFBR1):c.52GCG[12] (p.Ala24_Ala26dup) rs11466445
NM_004612.4(TGFBR1):c.52GCG[13] (p.Ala23_Ala26dup) rs11466445
NM_004612.4(TGFBR1):c.52GCG[14] (p.Ala22_Ala26dup) rs11466445
NM_004612.4(TGFBR1):c.52GCG[3] (p.Ala21_Ala26del) rs11466445
NM_004612.4(TGFBR1):c.52GCG[4] (p.Ala22_Ala26del) rs11466445
NM_004612.4(TGFBR1):c.52GCG[5] (p.Ala23_Ala26del) rs11466445
NM_004612.4(TGFBR1):c.569G>A (p.Gly190Asp) rs2118632040
NM_004612.4(TGFBR1):c.574+6A>G
NM_004612.4(TGFBR1):c.575G>T (p.Gly192Val)
NM_004612.4(TGFBR1):c.580C>T (p.Pro194Ser)
NM_004612.4(TGFBR1):c.586C>T (p.Leu196Phe) rs863223807
NM_004612.4(TGFBR1):c.596G>A (p.Arg199Lys) rs397517032
NM_004612.4(TGFBR1):c.59C>T (p.Ala20Val) rs1333080544
NM_004612.4(TGFBR1):c.601A>G (p.Ile201Val) rs781042616
NM_004612.4(TGFBR1):c.602T>C (p.Ile201Thr)
NM_004612.4(TGFBR1):c.604G>A (p.Ala202Thr)
NM_004612.4(TGFBR1):c.611C>T (p.Thr204Ile) rs886039068
NM_004612.4(TGFBR1):c.623A>C (p.Gln208Pro) rs1588585291
NM_004612.4(TGFBR1):c.634G>A (p.Gly212Ser)
NM_004612.4(TGFBR1):c.635G>T (p.Gly212Val)
NM_004612.4(TGFBR1):c.638A>T (p.Lys213Ile)
NM_004612.4(TGFBR1):c.644G>A (p.Arg215Gln) rs2118711787
NM_004612.4(TGFBR1):c.650G>T (p.Gly217Val)
NM_004612.4(TGFBR1):c.655G>T (p.Val219Phe) rs863223810
NM_004612.4(TGFBR1):c.658T>G (p.Trp220Gly)
NM_004612.4(TGFBR1):c.665G>A (p.Gly222Glu)
NM_004612.4(TGFBR1):c.673C>T (p.Arg225Trp) rs1564161544
NM_004612.4(TGFBR1):c.674G>A (p.Arg225Gln)
NM_004612.4(TGFBR1):c.676G>A (p.Gly226Arg) rs1827486970
NM_004612.4(TGFBR1):c.685G>C (p.Val229Leu)
NM_004612.4(TGFBR1):c.691G>C (p.Val231Leu)
NM_004612.4(TGFBR1):c.702CTC[1] (p.Ser236del) rs863223830
NM_004612.4(TGFBR1):c.704C>T (p.Ser235Phe) rs1554700632
NM_004612.4(TGFBR1):c.706T>C (p.Ser236Pro)
NM_004612.4(TGFBR1):c.70_97+13dup
NM_004612.4(TGFBR1):c.710G>A (p.Arg237Lys) rs1827490566
NM_004612.4(TGFBR1):c.712GAA[1] (p.Glu239del) rs2118716881
NM_004612.4(TGFBR1):c.725G>C (p.Trp242Ser)
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.73_81del (p.Ala25_Leu27del) rs948905780
NM_004612.4(TGFBR1):c.742A>T (p.Ile248Phe) rs2118719566
NM_004612.4(TGFBR1):c.752_806-1129del
NM_004612.4(TGFBR1):c.767A>G (p.His256Arg) rs1554700666
NM_004612.4(TGFBR1):c.778C>A (p.Leu260Met)
NM_004612.4(TGFBR1):c.779T>C (p.Leu260Pro) rs397517033
NM_004612.4(TGFBR1):c.787A>G (p.Ile263Val) rs1827496536
NM_004612.4(TGFBR1):c.796G>A (p.Asp266Asn) rs1060502043
NM_004612.4(TGFBR1):c.797A>T (p.Asp266Val)
NM_004612.4(TGFBR1):c.799A>G (p.Asn267Asp) rs727503471
NM_004612.4(TGFBR1):c.805+5G>A rs1827498156
NM_004612.4(TGFBR1):c.805G>A (p.Asp269Asn) rs1564162124
NM_004612.4(TGFBR1):c.806-14A>G
NM_004612.4(TGFBR1):c.806A>G (p.Asp269Gly)
NM_004612.4(TGFBR1):c.809A>G (p.Asn270Ser) rs201475375
NM_004612.4(TGFBR1):c.80_85del (p.Leu27_Leu28del) rs2118166265
NM_004612.4(TGFBR1):c.814A>C (p.Thr272Pro) rs2118776532
NM_004612.4(TGFBR1):c.820A>C (p.Thr274Pro) rs863223816
NM_004612.4(TGFBR1):c.824A>G (p.Gln275Arg) rs863223817
NM_004612.4(TGFBR1):c.835G>C (p.Val279Leu) rs112300506
NM_004612.4(TGFBR1):c.843_851del (p.Asp281_His283del)
NM_004612.4(TGFBR1):c.847C>T (p.His283Tyr)
NM_004612.4(TGFBR1):c.852G>A (p.Glu284=)
NM_004612.4(TGFBR1):c.85C>T (p.Pro29Ser)
NM_004612.4(TGFBR1):c.860C>T (p.Ser287Phe) rs863223832
NM_004612.4(TGFBR1):c.862C>G (p.Leu288Val)
NM_004612.4(TGFBR1):c.868G>T (p.Asp290Tyr)
NM_004612.4(TGFBR1):c.882A>G (p.Arg294=)
NM_004612.4(TGFBR1):c.895G>A (p.Val299Met)
NM_004612.4(TGFBR1):c.895G>T (p.Val299Leu) rs199822546
NM_004612.4(TGFBR1):c.899A>G (p.Glu300Gly) rs2118779242
NM_004612.4(TGFBR1):c.907A>T (p.Ile303Leu)
NM_004612.4(TGFBR1):c.916G>C (p.Ala306Pro)
NM_004612.4(TGFBR1):c.91G>T (p.Ala31Ser)
NM_004612.4(TGFBR1):c.923C>T (p.Ser308Phe) rs1564168346
NM_004612.4(TGFBR1):c.935G>A (p.Gly312Asp) rs869025535
NM_004612.4(TGFBR1):c.940G>T (p.Ala314Ser) rs1209722877
NM_004612.4(TGFBR1):c.952A>G (p.Met318Val) rs752190665
NM_004612.4(TGFBR1):c.952A>T (p.Met318Leu) rs752190665
NM_004612.4(TGFBR1):c.958A>T (p.Ile320Phe) rs760419678
NM_004612.4(TGFBR1):c.959T>A (p.Ile320Asn) rs1554701491
NM_004612.4(TGFBR1):c.961G>T (p.Val321Phe) rs1827655038
NM_004612.4(TGFBR1):c.962T>G (p.Val321Gly)
NM_004612.4(TGFBR1):c.965G>A (p.Gly322Asp) rs863223833
NM_004612.4(TGFBR1):c.97+2_97+35dup
NM_004612.4(TGFBR1):c.97+3G>A
NM_004612.4(TGFBR1):c.97+6C>T
NM_004612.4(TGFBR1):c.98C>G (p.Ala33Gly) rs1554698880
NM_004612.4(TGFBR1):c.992A>C (p.His331Pro)
NM_004612.4(TGFBR1):c.992A>T (p.His331Leu) rs1827738279
NM_004612.4(TGFBR1):c.994_999del (p.Arg332_Asp333del) rs727504383

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