ClinVar Miner

List of variants in gene TGFBR1 reported by Color Diagnostics, LLC DBA Color Health

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Gene type:
ClinVar version:
Total variants: 168
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HGVS dbSNP gnomAD frequency
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) rs7861780 0.00288
NM_004612.4(TGFBR1):c.1152C>T (p.Leu384=) rs115324990 0.00207
NM_004612.4(TGFBR1):c.1387-14dup rs863223800 0.00145
NM_004612.4(TGFBR1):c.457G>A (p.Val153Ile) rs56014374 0.00115
NM_004612.4(TGFBR1):c.192A>G (p.Lys64=) rs112051451 0.00081
NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser) rs141259922 0.00036
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=) rs190878719 0.00026
NM_004612.4(TGFBR1):c.810T>C (p.Asn270=) rs147388628 0.00024
NM_004612.4(TGFBR1):c.1032T>C (p.Asn344=) rs192662552 0.00022
NM_004612.4(TGFBR1):c.415A>G (p.Ile139Val) rs148176750 0.00022
NM_004612.4(TGFBR1):c.207C>T (p.Ser69=) rs145033378 0.00019
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu) rs111513627 0.00019
NM_004612.4(TGFBR1):c.1216T>C (p.Leu406=) rs200062984 0.00016
NM_004612.4(TGFBR1):c.1497A>G (p.Glu499=) rs200055681 0.00013
NM_004612.4(TGFBR1):c.470G>C (p.Arg157Pro) rs147146713 0.00012
NM_004612.4(TGFBR1):c.120C>T (p.Leu40=) rs201267786 0.00011
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.1065A>C (p.Ala355=) rs758280185 0.00004
NM_004612.4(TGFBR1):c.1091C>G (p.Thr364Ser) rs201050937 0.00004
NM_004612.4(TGFBR1):c.135T>C (p.Asn45=) rs369226180 0.00004
NM_004612.4(TGFBR1):c.1479G>A (p.Ser493=) rs144985585 0.00004
NM_004612.4(TGFBR1):c.1256-13T>A rs200979110 0.00003
NM_004612.4(TGFBR1):c.930G>A (p.Ala310=) rs139090459 0.00003
NM_004612.4(TGFBR1):c.933C>T (p.Ser311=) rs200912890 0.00003
NM_004612.4(TGFBR1):c.1275A>G (p.Gln425=) rs753301297 0.00002
NM_004612.4(TGFBR1):c.199C>T (p.His67Tyr) rs766157497 0.00002
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.495A>G (p.Ser165=) rs753147276 0.00002
NM_004612.4(TGFBR1):c.516A>G (p.Ser172=) rs140245968 0.00002
NM_004612.4(TGFBR1):c.613A>G (p.Ile205Val) rs200018073 0.00002
NM_004612.4(TGFBR1):c.*2T>C rs922249989 0.00001
NM_004612.4(TGFBR1):c.*5A>G rs201254457 0.00001
NM_004612.4(TGFBR1):c.1008A>G (p.Ser336=) rs761512764 0.00001
NM_004612.4(TGFBR1):c.1022T>C (p.Val341Ala) rs1162682079 0.00001
NM_004612.4(TGFBR1):c.1131-10T>A rs1390613164 0.00001
NM_004612.4(TGFBR1):c.1190A>G (p.Lys397Arg) rs907536931 0.00001
NM_004612.4(TGFBR1):c.1205A>G (p.Tyr402Cys) rs762486367 0.00001
NM_004612.4(TGFBR1):c.1211T>C (p.Met404Thr) rs1241201708 0.00001
NM_004612.4(TGFBR1):c.1236T>G (p.Ala412=) rs895357571 0.00001
NM_004612.4(TGFBR1):c.1256-3C>T rs755431191 0.00001
NM_004612.4(TGFBR1):c.1256-8T>C rs1187207740 0.00001
NM_004612.4(TGFBR1):c.1350A>G (p.Leu450=) rs897701457 0.00001
NM_004612.4(TGFBR1):c.1386+6T>C rs1375191528 0.00001
NM_004612.4(TGFBR1):c.1394G>A (p.Arg465Lys) rs556555554 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.220G>A (p.Glu74Lys) rs998268148 0.00001
NM_004612.4(TGFBR1):c.222A>C (p.Glu74Asp) rs201910738 0.00001
NM_004612.4(TGFBR1):c.249G>A (p.Pro83=) rs200091200 0.00001
NM_004612.4(TGFBR1):c.376C>G (p.Leu126Val) rs756586874 0.00001
NM_004612.4(TGFBR1):c.451C>T (p.Arg151Cys) rs776680716 0.00001
NM_004612.4(TGFBR1):c.561A>G (p.Ser187=) rs1315925147 0.00001
NM_004612.4(TGFBR1):c.583T>C (p.Leu195=) rs1827483486 0.00001
NM_004612.4(TGFBR1):c.606G>A (p.Ala202=) rs201497553 0.00001
NM_004612.4(TGFBR1):c.714A>C (p.Glu238Asp) rs1827490717 0.00001
NM_004612.4(TGFBR1):c.720T>C (p.Arg240=) rs200078591 0.00001
NM_004612.4(TGFBR1):c.813T>C (p.Gly271=) rs200511345 0.00001
NM_004612.4(TGFBR1):c.844T>C (p.Tyr282His) rs755827803 0.00001
NM_004612.4(TGFBR1):c.883T>A (p.Tyr295Asn) rs200560562 0.00001
NM_004612.4(TGFBR1):c.888A>G (p.Thr296=) rs201943631 0.00001
NM_004612.4(TGFBR1):c.889G>A (p.Val297Ile) rs757284158 0.00001
NM_004612.4(TGFBR1):c.897G>A (p.Val299=) rs369881419 0.00001
NM_004612.4(TGFBR1):c.927G>A (p.Thr309=) rs201323409 0.00001
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser) rs760079636 0.00001
NM_004612.4(TGFBR1):c.99G>A (p.Ala33=) rs779055286 0.00001
NM_004612.4(TGFBR1):c.1031A>G (p.Asn344Ser) rs1827740020
NM_004612.4(TGFBR1):c.1033G>A (p.Gly345Arg) rs1554701900
NM_004612.4(TGFBR1):c.1065A>G (p.Ala355=) rs758280185
NM_004612.4(TGFBR1):c.1107A>G (p.Pro369=) rs1827742534
NM_004612.4(TGFBR1):c.1131-8T>G rs1827799094
NM_004612.4(TGFBR1):c.1133A>G (p.Tyr378Cys) rs2118826506
NM_004612.4(TGFBR1):c.1134C>T (p.Tyr378=) rs1827799271
NM_004612.4(TGFBR1):c.1140C>T (p.Ala380=) rs1407167849
NM_004612.4(TGFBR1):c.1157A>G (p.Asp386Gly) rs1827800557
NM_004612.4(TGFBR1):c.1196C>G (p.Ala399Gly) rs1827802075
NM_004612.4(TGFBR1):c.1216T>A (p.Leu406Ile) rs200062984
NM_004612.4(TGFBR1):c.1237C>T (p.Arg413Ter) rs200595614
NM_004612.4(TGFBR1):c.1256-2A>G rs1827839566
NM_004612.4(TGFBR1):c.1278G>T (p.Leu426=) rs368928967
NM_004612.4(TGFBR1):c.1284T>C (p.Tyr428=) rs201163170
NM_004612.4(TGFBR1):c.1289A>T (p.Asp430Val) rs2118839539
NM_004612.4(TGFBR1):c.1310C>T (p.Ser437Leu) rs1827842067
NM_004612.4(TGFBR1):c.1317A>G (p.Glu439=)
NM_004612.4(TGFBR1):c.1325G>A (p.Arg442Lys) rs1827843082
NM_004612.4(TGFBR1):c.1360A>G (p.Ile454Val) rs1827845172
NM_004612.4(TGFBR1):c.1387-14A>T rs201772204
NM_004612.4(TGFBR1):c.1389C>T (p.Ala463=) rs1266698972
NM_004612.4(TGFBR1):c.1424G>C (p.Trp475Ser)
NM_004612.4(TGFBR1):c.1428T>C (p.Tyr476=) rs1827899944
NM_004612.4(TGFBR1):c.1430C>T (p.Ala477Val) rs1827900086
NM_004612.4(TGFBR1):c.1456T>C (p.Leu486=) rs111818778
NM_004612.4(TGFBR1):c.1459C>A (p.Arg487=)
NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp) rs111426349
NM_004612.4(TGFBR1):c.1479G>C (p.Ser493=)
NM_004612.4(TGFBR1):c.1512A>G (p.Ter504=) rs1827906070
NM_004612.4(TGFBR1):c.154G>C (p.Gly52Arg) rs587776865
NM_004612.4(TGFBR1):c.157C>T (p.Leu53Phe) rs1827123254
NM_004612.4(TGFBR1):c.159C>T (p.Leu53=)
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.193G>A (p.Val65Ile) rs1827124531
NM_004612.4(TGFBR1):c.225T>A (p.Ile75=) rs200543076
NM_004612.4(TGFBR1):c.239G>A (p.Arg80Gln) rs1368326650
NM_004612.4(TGFBR1):c.256T>C (p.Cys86Arg) rs2118570240
NM_004612.4(TGFBR1):c.276T>C (p.Thr92=) rs1383627671
NM_004612.4(TGFBR1):c.283G>A (p.Val95Met) rs1827129569
NM_004612.4(TGFBR1):c.294A>G (p.Thr98=) rs747332492
NM_004612.4(TGFBR1):c.297T>C (p.Tyr99=) rs550395617
NM_004612.4(TGFBR1):c.337A>G (p.Thr113Ala) rs762573778
NM_004612.4(TGFBR1):c.341C>G (p.Thr114Ser) rs1827133059
NM_004612.4(TGFBR1):c.341C>T (p.Thr114Ile) rs1827133059
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>T (p.Gly120Val)
NM_004612.4(TGFBR1):c.398C>T (p.Pro133Leu) rs1827269407
NM_004612.4(TGFBR1):c.403T>G (p.Cys135Gly) rs1827269961
NM_004612.4(TGFBR1):c.408C>T (p.Phe136=) rs773845018
NM_004612.4(TGFBR1):c.409G>A (p.Val137Ile) rs745576967
NM_004612.4(TGFBR1):c.424A>T (p.Met142Leu) rs1029455360
NM_004612.4(TGFBR1):c.449A>G (p.Asn150Ser) rs945370154
NM_004612.4(TGFBR1):c.453C>T (p.Arg151=)
NM_004612.4(TGFBR1):c.470G>A (p.Arg157Gln) rs147146713
NM_004612.4(TGFBR1):c.487del (p.Asp163fs) rs1827276619
NM_004612.4(TGFBR1):c.488A>G (p.Asp163Gly) rs2118629610
NM_004612.4(TGFBR1):c.503G>T (p.Arg168Leu) rs777965779
NM_004612.4(TGFBR1):c.505C>G (p.Pro169Ala) rs1827278155
NM_004612.4(TGFBR1):c.529T>C (p.Leu177=) rs1827279899
NM_004612.4(TGFBR1):c.538T>C (p.Leu180=) rs1827280418
NM_004612.4(TGFBR1):c.558G>A (p.Thr186=) rs538382054
NM_004612.4(TGFBR1):c.574+7_574+8del
NM_004612.4(TGFBR1):c.575-5T>G rs1025639851
NM_004612.4(TGFBR1):c.575-9dup rs863223798
NM_004612.4(TGFBR1):c.582A>G (p.Pro194=) rs200679996
NM_004612.4(TGFBR1):c.582A>T (p.Pro194=) rs200679996
NM_004612.4(TGFBR1):c.603T>C (p.Ile201=) rs1326484806
NM_004612.4(TGFBR1):c.617T>C (p.Val206Ala) rs1827484742
NM_004612.4(TGFBR1):c.618G>T (p.Val206=) rs1057523644
NM_004612.4(TGFBR1):c.623A>T (p.Gln208Leu) rs1588585291
NM_004612.4(TGFBR1):c.651A>G (p.Gly217=) rs1321254948
NM_004612.4(TGFBR1):c.654A>G (p.Glu218=)
NM_004612.4(TGFBR1):c.673C>T (p.Arg225Trp) rs1564161544
NM_004612.4(TGFBR1):c.678A>G (p.Gly226=) rs201444476
NM_004612.4(TGFBR1):c.691G>A (p.Val231Ile)
NM_004612.4(TGFBR1):c.702C>T (p.Phe234=) rs202156059
NM_004612.4(TGFBR1):c.723G>A (p.Ser241=) rs201112150
NM_004612.4(TGFBR1):c.730C>T (p.Arg244Cys) rs2118718530
NM_004612.4(TGFBR1):c.735G>A (p.Glu245=) rs1588585506
NM_004612.4(TGFBR1):c.741G>A (p.Glu247=) rs764165477
NM_004612.4(TGFBR1):c.805+5del rs1300823570
NM_004612.4(TGFBR1):c.805+7_805+17del rs1827498513
NM_004612.4(TGFBR1):c.828C>G (p.Leu276=) rs886063224
NM_004612.4(TGFBR1):c.831_841del (p.Trp277_Asp281delinsTer) rs1827647231
NM_004612.4(TGFBR1):c.842A>C (p.Asp281Ala) rs1827647938
NM_004612.4(TGFBR1):c.854A>G (p.His285Arg) rs1588590331
NM_004612.4(TGFBR1):c.854A>T (p.His285Leu) rs1588590331
NM_004612.4(TGFBR1):c.882A>G (p.Arg294=)
NM_004612.4(TGFBR1):c.929C>A (p.Ala310Glu) rs202010361
NM_004612.4(TGFBR1):c.930G>T (p.Ala310=)
NM_004612.4(TGFBR1):c.951C>T (p.His317=) rs2118780749
NM_004612.4(TGFBR1):c.974-3del rs1443971886
NM_004612.4(TGFBR1):c.98C>G (p.Ala33Gly) rs1554698880
NM_004612.4(TGFBR1):c.98C>T (p.Ala33Val) rs1554698880

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