ClinVar Miner

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

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 87
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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.1065A>C (p.Ala355=) rs758280185 0.00004
NM_004612.4(TGFBR1):c.1091C>G (p.Thr364Ser) rs201050937 0.00004
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.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.1022T>C (p.Val341Ala) rs1162682079 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.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.376C>G (p.Leu126Val) rs756586874 0.00001
NM_004612.4(TGFBR1):c.451C>T (p.Arg151Cys) rs776680716 0.00001
NM_004612.4(TGFBR1):c.714A>C (p.Glu238Asp) rs1827490717 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.889G>A (p.Val297Ile) rs757284158 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.1131-8T>G rs1827799094
NM_004612.4(TGFBR1):c.1133A>G (p.Tyr378Cys) rs2118826506
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.1289A>T (p.Asp430Val) rs2118839539
NM_004612.4(TGFBR1):c.1310C>T (p.Ser437Leu) rs1827842067
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.1424G>C (p.Trp475Ser)
NM_004612.4(TGFBR1):c.1430C>T (p.Ala477Val) rs1827900086
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.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.239G>A (p.Arg80Gln) rs1368326650
NM_004612.4(TGFBR1):c.256T>C (p.Cys86Arg) rs2118570240
NM_004612.4(TGFBR1):c.283G>A (p.Val95Met) rs1827129569
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.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.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.574+7_574+8del
NM_004612.4(TGFBR1):c.617T>C (p.Val206Ala) rs1827484742
NM_004612.4(TGFBR1):c.623A>T (p.Gln208Leu) rs1588585291
NM_004612.4(TGFBR1):c.673C>T (p.Arg225Trp) rs1564161544
NM_004612.4(TGFBR1):c.691G>A (p.Val231Ile)
NM_004612.4(TGFBR1):c.730C>T (p.Arg244Cys) rs2118718530
NM_004612.4(TGFBR1):c.805+5del rs1300823570
NM_004612.4(TGFBR1):c.805+7_805+17del rs1827498513
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.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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