ClinVar Miner

List of variants in gene TGFBR2 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 241
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HGVS dbSNP gnomAD frequency
NM_003242.6(TGFBR2):c.454+267T>C rs2029314 0.90229
NM_003242.6(TGFBR2):c.264-289G>A rs6790706 0.89885
NM_003242.6(TGFBR2):c.95-1556G>A rs9867701 0.69361
NM_003242.6(TGFBR2):c.1397-240G>A rs9843942 0.43220
NM_003242.6(TGFBR2):c.263+7A>G rs1155705 0.34308
NM_003242.6(TGFBR2):c.95-1332C>T rs17838698 0.30717
NM_003242.6(TGFBR2):c.95-3205C>G rs34771216 0.28245
NM_003242.6(TGFBR2):c.95-3038A>G rs56277861 0.28227
NM_003242.6(TGFBR2):c.95-3292T>C rs13093591 0.28184
NM_003242.6(TGFBR2):c.95-3262G>A rs67771022 0.26538
NM_003242.6(TGFBR2):c.455-4T>A rs11466512 0.25954
NM_003242.6(TGFBR2):c.1396+239C>T rs11466521 0.20744
NM_003242.6(TGFBR2):c.455-303A>C rs11466511 0.20380
NM_003242.6(TGFBR2):c.1524+236C>T rs2276768 0.18317
NM_003242.6(TGFBR2):c.*747C>G rs11466531 0.10463
NM_003242.6(TGFBR2):c.1525-212G>C rs9831664 0.06310
NM_003242.6(TGFBR2):c.*2085T>A rs11466537 0.04867
NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=) rs2228048 0.03013
NM_003242.6(TGFBR2):c.1266A>G (p.Ala422=) rs2228047 0.02974
NM_003242.6(TGFBR2):c.999A>G (p.Leu333=) rs2229102 0.02537
NM_003242.6(TGFBR2):c.*1833A>C rs1803446 0.02445
NM_003242.6(TGFBR2):c.1524+230C>G rs9819937 0.02439
NM_003242.6(TGFBR2):c.1397-140A>C rs11466525 0.01826
NM_003242.6(TGFBR2):c.*330C>A rs304840 0.01221
NM_003242.6(TGFBR2):c.*1880G>A rs11466534 0.01174
NM_003242.6(TGFBR2):c.*835C>A rs17026332 0.00994
NM_003242.6(TGFBR2):c.264-35T>G rs11466495 0.00944
NM_003242.5(TGFBR2):c.-302A>G rs138010137 0.00832
NM_003242.6(TGFBR2):c.454+74A>G rs11466496 0.00724
NC_000003.12:g.30606225T>G rs6808594 0.00693
NM_003242.6(TGFBR2):c.1397-116G>A rs11466526 0.00656
NM_003242.6(TGFBR2):c.1254+98A>G rs11466513 0.00634
NM_003242.6(TGFBR2):c.454+278C>T rs11466498 0.00471
NM_003242.6(TGFBR2):c.*599C>A rs79755385 0.00431
NM_003242.6(TGFBR2):c.*149A>T rs143024112 0.00415
NM_003242.6(TGFBR2):c.1396+116C>A rs72850837 0.00409
NM_003242.6(TGFBR2):c.1525-8C>T rs11466530 0.00230
NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=) rs113194608 0.00194
NM_003242.6(TGFBR2):c.1602G>A (p.Val534=) rs140818646 0.00166
NM_003242.6(TGFBR2):c.94+40G>T rs561070366 0.00151
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 0.00130
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr) rs112215250 0.00115
NM_003242.6(TGFBR2):c.94+16245G>A rs61732532 0.00111
NM_003242.6(TGFBR2):c.106A>G (p.Met36Val) rs17025864 0.00092
NM_003242.6(TGFBR2):c.1458C>T (p.Ser486=) rs139881155 0.00075
NM_003242.6(TGFBR2):c.649G>C (p.Ala217Pro) rs149141477 0.00046
NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile) rs56105708 0.00039
NM_003242.6(TGFBR2):c.94+16202A>G rs375610471 0.00039
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812 0.00034
NM_003242.6(TGFBR2):c.1525-7G>A rs377499122 0.00032
NM_003242.6(TGFBR2):c.263+17A>C rs34771516 0.00029
NM_003242.6(TGFBR2):c.915C>T (p.Leu305=) rs146030104 0.00026
NM_003242.6(TGFBR2):c.1548G>A (p.Thr516=) rs140662877 0.00021
NM_003242.6(TGFBR2):c.4G>T (p.Gly2Cys) rs565502802 0.00021
NM_003242.6(TGFBR2):c.984C>T (p.His328=) rs193922666 0.00018
NM_003242.6(TGFBR2):c.94+16238C>T rs149757320 0.00013
NM_003242.6(TGFBR2):c.1092T>C (p.Asp364=) rs149195553 0.00010
NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu) rs768385200 0.00010
NM_003242.6(TGFBR2):c.95-20A>G rs371326218 0.00010
NM_003242.6(TGFBR2):c.1464G>A (p.Lys488=) rs753282415 0.00007
NM_003242.6(TGFBR2):c.1066C>G (p.Arg356Gly) rs199660234 0.00006
NM_003242.6(TGFBR2):c.937C>T (p.Arg313Trp) rs55751315 0.00006
NM_003242.6(TGFBR2):c.94+16263A>C rs200111443 0.00006
NM_003242.6(TGFBR2):c.985G>A (p.Ala329Thr) rs148665451 0.00006
NM_003242.6(TGFBR2):c.567C>T (p.Tyr189=) rs371221124 0.00005
NM_003242.6(TGFBR2):c.689C>T (p.Thr230Met) rs150116445 0.00005
NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp) rs761991787 0.00004
NM_003242.6(TGFBR2):c.116C>A (p.Thr39Asn) rs146277116 0.00004
NM_003242.6(TGFBR2):c.1524+10G>C rs377397188 0.00004
NM_003242.6(TGFBR2):c.1569C>T (p.His523=) rs760107571 0.00004
NM_003242.6(TGFBR2):c.511A>G (p.Ser171Gly) rs767581059 0.00004
NM_003242.6(TGFBR2):c.617C>T (p.Thr206Met) rs150022335 0.00004
NM_003242.6(TGFBR2):c.620G>A (p.Arg207Gln) rs371209879 0.00004
NM_003242.6(TGFBR2):c.69G>T (p.Thr23=) rs878854612 0.00004
NM_003242.6(TGFBR2):c.938G>A (p.Arg313Gln) rs200361387 0.00004
NM_003242.6(TGFBR2):c.94+16260C>A rs113474008 0.00004
NM_003242.6(TGFBR2):c.95-3C>A rs375330013 0.00004
NM_003242.6(TGFBR2):c.975C>T (p.Thr325=) rs532098604 0.00004
NM_003242.6(TGFBR2):c.569G>A (p.Arg190His) rs780542125 0.00003
NM_003242.6(TGFBR2):c.639C>T (p.Ser213=) rs200332401 0.00003
NM_003242.6(TGFBR2):c.64A>T (p.Ser22Cys) rs767407566 0.00003
NM_003242.6(TGFBR2):c.671G>A (p.Arg224His) rs112465572 0.00003
NM_003242.6(TGFBR2):c.690G>A (p.Thr230=) rs201560560 0.00003
NM_003242.6(TGFBR2):c.81C>T (p.His27=) rs1057520957 0.00003
NM_003242.6(TGFBR2):c.94+16273G>A rs781529108 0.00003
NM_003242.6(TGFBR2):c.94+16278G>C rs557449314 0.00003
NM_003242.6(TGFBR2):c.1043G>A (p.Arg348His) rs369450067 0.00002
NM_003242.6(TGFBR2):c.1063G>A (p.Ala355Thr) rs104893813 0.00002
NM_003242.6(TGFBR2):c.1158C>T (p.Leu386=) rs757158964 0.00002
NM_003242.6(TGFBR2):c.94+16308T>C rs770994456 0.00002
NM_003242.6(TGFBR2):c.-27G>C rs1469986980 0.00001
NM_003242.6(TGFBR2):c.-31G>A rs767154664 0.00001
NM_003242.6(TGFBR2):c.1014G>A (p.Thr338=) rs764720370 0.00001
NM_003242.6(TGFBR2):c.1067G>A (p.Arg356Gln) rs727504292 0.00001
NM_003242.6(TGFBR2):c.1116G>A (p.Lys372=) rs753782498 0.00001
NM_003242.6(TGFBR2):c.1125C>T (p.Ile375=) rs751663055 0.00001
NM_003242.6(TGFBR2):c.1153A>G (p.Ile385Val) rs137908708 0.00001
NM_003242.6(TGFBR2):c.115A>T (p.Thr39Ser) rs780280433 0.00001
NM_003242.6(TGFBR2):c.1185G>C (p.Leu395=) rs193922663 0.00001
NM_003242.6(TGFBR2):c.1207C>T (p.Arg403Cys) rs886038960 0.00001
NM_003242.6(TGFBR2):c.1208G>A (p.Arg403His) rs143095746 0.00001
NM_003242.6(TGFBR2):c.1217C>T (p.Pro406Leu) rs748480163 0.00001
NM_003242.6(TGFBR2):c.1254+12C>T rs763098114 0.00001
NM_003242.6(TGFBR2):c.1435C>T (p.Arg479Trp) rs1444024775 0.00001
NM_003242.6(TGFBR2):c.1452C>T (p.Val484=) rs185502982 0.00001
NM_003242.6(TGFBR2):c.1471G>A (p.Val491Met) rs754176932 0.00001
NM_003242.6(TGFBR2):c.1525-5T>C rs770896804 0.00001
NM_003242.6(TGFBR2):c.1525-6C>G rs748388518 0.00001
NM_003242.6(TGFBR2):c.1546A>T (p.Thr516Ser) rs370708687 0.00001
NM_003242.6(TGFBR2):c.1643C>T (p.Ser548Leu) rs755070814 0.00001
NM_003242.6(TGFBR2):c.1658C>T (p.Ser553Leu) rs569635708 0.00001
NM_003242.6(TGFBR2):c.1659G>A (p.Ser553=) rs771926828 0.00001
NM_003242.6(TGFBR2):c.1681G>A (p.Gly561Ser) rs768103695 0.00001
NM_003242.6(TGFBR2):c.263+22T>C rs566716859 0.00001
NM_003242.6(TGFBR2):c.263+6C>T rs758501054 0.00001
NM_003242.6(TGFBR2):c.412T>G (p.Cys138Gly) rs863223838 0.00001
NM_003242.6(TGFBR2):c.437A>G (p.Asn146Ser) rs863223836 0.00001
NM_003242.6(TGFBR2):c.556T>A (p.Phe186Ile) rs368346624 0.00001
NM_003242.6(TGFBR2):c.610G>A (p.Gly204Ser) rs773431795 0.00001
NM_003242.6(TGFBR2):c.6T>C (p.Gly2=) rs758864131 0.00001
NM_003242.6(TGFBR2):c.76C>T (p.Pro26Ser) rs764160271 0.00001
NM_003242.6(TGFBR2):c.933G>A (p.Glu311=) rs754003334 0.00001
NM_003242.6(TGFBR2):c.94+16293C>A rs138262219 0.00001
NM_003242.6(TGFBR2):c.94+6T>G rs1269699495 0.00001
GRCh38/hg38 3p24.1(chr3:30634639-30638613)x1
NM_003242.5(TGFBR2):c.454+17_454+47del31ins22
NM_003242.6(TGFBR2):c.*2065C>T rs11466536
NM_003242.6(TGFBR2):c.*2248del rs34914516
NM_003242.6(TGFBR2):c.*2248dup rs34914516
NM_003242.6(TGFBR2):c.*310_*311del rs199931498
NM_003242.6(TGFBR2):c.*312AT[10] rs4016180
NM_003242.6(TGFBR2):c.*312AT[11] rs4016180
NM_003242.6(TGFBR2):c.*312AT[8] rs4016180
NM_003242.6(TGFBR2):c.*330_*331del rs561991238
NM_003242.6(TGFBR2):c.1016G>T (p.Arg339Leu) rs727503473
NM_003242.6(TGFBR2):c.1066C>T (p.Arg356Trp) rs199660234
NM_003242.6(TGFBR2):c.1085A>G (p.His362Arg) rs863223842
NM_003242.6(TGFBR2):c.1120C>T (p.Pro374Ser) rs863223843
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.1128G>A (p.Val376=) rs1057523953
NM_003242.6(TGFBR2):c.1129C>G (p.His377Asp)
NM_003242.6(TGFBR2):c.1145G>A (p.Ser382Asn) rs863223844
NM_003242.6(TGFBR2):c.1151A>G (p.Asn384Ser) rs193922660
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.1184T>A (p.Leu395Gln) rs2125436781
NM_003242.6(TGFBR2):c.1190A>G (p.Asp397Gly) rs863223846
NM_003242.6(TGFBR2):c.1202C>T (p.Ser401Phe) rs1575158141
NM_003242.6(TGFBR2):c.1220C>T (p.Thr407Ile)
NM_003242.6(TGFBR2):c.1254+8A>G rs200630803
NM_003242.6(TGFBR2):c.1255G>T (p.Val419Leu) rs863223847
NM_003242.6(TGFBR2):c.1256T>A (p.Val419Glu) rs863223848
NM_003242.6(TGFBR2):c.1265C>A (p.Ala422Glu) rs1699390424
NM_003242.6(TGFBR2):c.1276G>A (p.Ala426Thr) rs863223849
NM_003242.6(TGFBR2):c.1277C>A (p.Ala426Asp) rs730880224
NM_003242.6(TGFBR2):c.1279C>T (p.Pro427Ser) rs863223850
NM_003242.6(TGFBR2):c.1289T>C (p.Leu430Pro) rs1371233083
NM_003242.6(TGFBR2):c.1302G>A (p.Met434Ile)
NM_003242.6(TGFBR2):c.1307T>C (p.Leu436Ser) rs2125438986
NM_003242.6(TGFBR2):c.1324T>C (p.Phe442Leu) rs2125439063
NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn) rs886039551
NM_003242.6(TGFBR2):c.1338T>G (p.Asp446Glu) rs863223851
NM_003242.6(TGFBR2):c.1368A>C (p.Glu456Asp) rs2125439314
NM_003242.6(TGFBR2):c.136A>T (p.Lys46Ter) rs1553627148
NM_003242.6(TGFBR2):c.1378C>T (p.Arg460Cys) rs104893811
NM_003242.6(TGFBR2):c.1379G>A (p.Arg460His) rs104893816
NM_003242.6(TGFBR2):c.1379G>C (p.Arg460Pro) rs104893816
NM_003242.6(TGFBR2):c.1393G>T (p.Gly465Ter)
NM_003242.6(TGFBR2):c.1410T>G (p.Tyr470Ter) rs1553631696
NM_003242.6(TGFBR2):c.1417C>T (p.Pro473Ser) rs2125451665
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.1436G>T (p.Arg479Leu) rs1553631704
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter) rs104893819
NM_003242.6(TGFBR2):c.1487G>A (p.Gly496Glu) rs2125452105
NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter) rs863223852
NM_003242.6(TGFBR2):c.1490G>A (p.Arg497Gln) rs200958264
NM_003242.6(TGFBR2):c.1518C>A (p.Asn506Lys) rs2125452270
NM_003242.6(TGFBR2):c.1525-11del rs1064795299
NM_003242.6(TGFBR2):c.1526G>T (p.Gly509Val) rs863223853
NM_003242.6(TGFBR2):c.1564G>A (p.Asp522Asn) rs863223854
NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn) rs727504421
NM_003242.6(TGFBR2):c.1573C>T (p.Pro525Ser) rs2125455256
NM_003242.6(TGFBR2):c.1580C>T (p.Ala527Val) rs727503476
NM_003242.6(TGFBR2):c.1582C>T (p.Arg528Cys) rs104893810
NM_003242.6(TGFBR2):c.1583G>A (p.Arg528His) rs104893815
NM_003242.6(TGFBR2):c.1591G>A (p.Ala531Thr) rs727503477
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys) rs104893809
NM_003242.6(TGFBR2):c.1610G>A (p.Arg537His) rs1057524810
NM_003242.6(TGFBR2):c.1680C>G (p.Asp560Glu) rs376815143
NM_003242.6(TGFBR2):c.182G>A (p.Cys61Tyr) rs2125404783
NM_003242.6(TGFBR2):c.263+220T>C rs1155706
NM_003242.6(TGFBR2):c.263+240T>C rs1155707
NM_003242.6(TGFBR2):c.263+7_263+9delinsGAC rs1064794518
NM_003242.6(TGFBR2):c.264-193del rs11466494
NM_003242.6(TGFBR2):c.264-7A>G rs1001983657
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.413dup (p.Cys138fs)
NM_003242.6(TGFBR2):c.42C>G (p.Ile14Met) rs1697933283
NM_003242.6(TGFBR2):c.454G>A (p.Glu152Lys) rs778675253
NM_003242.6(TGFBR2):c.455-2del rs863223855
NM_003242.6(TGFBR2):c.455-4T>C rs11466512
NM_003242.6(TGFBR2):c.464C>T (p.Thr155Ile) rs727504406
NM_003242.6(TGFBR2):c.470A>G (p.Asn157Ser)
NM_003242.6(TGFBR2):c.498A>G (p.Gln166=) rs1699339065
NM_003242.6(TGFBR2):c.533T>A (p.Val178Asp) rs1553630079
NM_003242.6(TGFBR2):c.538A>C (p.Ile180Leu) rs1699340728
NM_003242.6(TGFBR2):c.538A>G (p.Ile180Val) rs1699340728
NM_003242.6(TGFBR2):c.551T>A (p.Ile184Asn) rs863223839
NM_003242.6(TGFBR2):c.554TCT[1] (p.Phe186del) rs1699341292
NM_003242.6(TGFBR2):c.56G>T (p.Arg19Leu) rs763085648
NM_003242.6(TGFBR2):c.625C>T (p.Leu209Phe) rs1288771489
NM_003242.6(TGFBR2):c.631G>A (p.Glu211Lys) rs2125433766
NM_003242.6(TGFBR2):c.659T>C (p.Leu220Pro) rs1553630112
NM_003242.6(TGFBR2):c.701A>T (p.Asn234Ile) rs863223840
NM_003242.6(TGFBR2):c.70A>T (p.Ile24Phe) rs1697934054
NM_003242.6(TGFBR2):c.760C>T (p.Arg254Cys) rs863223856
NM_003242.6(TGFBR2):c.770A>G (p.Glu257Gly) rs2125434288
NM_003242.6(TGFBR2):c.805G>T (p.Glu269Ter) rs1699347759
NM_003242.6(TGFBR2):c.823G>T (p.Ala275Ser) rs757521476
NM_003242.6(TGFBR2):c.845_853del (p.Glu282_Tyr284del) rs1085307498
NM_003242.6(TGFBR2):c.902A>G (p.His301Arg) rs863223857
NM_003242.6(TGFBR2):c.903T>C (p.His301=) rs1369484772
NM_003242.6(TGFBR2):c.908A>G (p.Asn303Ser) rs2125435026
NM_003242.6(TGFBR2):c.913C>T (p.Leu305Phe) rs1553630171
NM_003242.6(TGFBR2):c.914T>A (p.Leu305His) rs1553630174
NM_003242.6(TGFBR2):c.914T>G (p.Leu305Arg) rs1553630174
NM_003242.6(TGFBR2):c.938G>T (p.Arg313Leu) rs200361387
NM_003242.6(TGFBR2):c.94+15937GAAAAA[2] rs58094038
NM_003242.6(TGFBR2):c.94+16260C>G rs113474008
NM_003242.6(TGFBR2):c.94+16260C>T rs113474008
NM_003242.6(TGFBR2):c.94+16282A>G
NM_003242.6(TGFBR2):c.95-3057C>G rs72849374
NM_003242.6(TGFBR2):c.95-3300G>C rs12493607
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.968T>G (p.Leu323Arg) rs1699353079
NM_003242.6(TGFBR2):c.978C>T (p.Ala326=) rs1575157891
NM_003242.6(TGFBR2):c.998T>A (p.Leu333Gln) rs863223841

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