ClinVar Miner

List of variants in gene TGFBR2 reported as uncertain significance for cardiovascular disorder

Included ClinVar conditions (1435):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 489
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 0.00130
NM_003242.6(TGFBR2):c.*742C>T rs17026328 0.00125
NM_003242.6(TGFBR2):c.*2066G>A rs566913021 0.00116
NM_003242.6(TGFBR2):c.*443A>G rs188599299 0.00065
NM_003242.6(TGFBR2):c.649G>C (p.Ala217Pro) rs149141477 0.00046
NM_003242.6(TGFBR2):c.*86A>G rs540602629 0.00021
NM_003242.6(TGFBR2):c.4G>T (p.Gly2Cys) rs565502802 0.00021
NM_003242.6(TGFBR2):c.*407A>G rs917786105 0.00015
NM_003242.5(TGFBR2):c.-371A>C rs886058297 0.00010
NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu) rs768385200 0.00010
NM_003242.6(TGFBR2):c.1616G>T (p.Ser539Ile) rs1035228561 0.00009
NM_003242.6(TGFBR2):c.125A>G (p.Asn42Ser) rs1305653433 0.00008
NM_003242.6(TGFBR2):c.1013C>T (p.Thr338Met) rs752866783 0.00007
NM_003242.5(TGFBR2):c.-307C>T rs749340193 0.00006
NM_003242.6(TGFBR2):c.*1637G>A rs1032978663 0.00006
NM_003242.6(TGFBR2):c.-337T>A rs1038796042 0.00006
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.985G>A (p.Ala329Thr) rs148665451 0.00006
NM_003242.6(TGFBR2):c.340G>C (p.Glu114Gln) rs771551560 0.00005
NM_003242.6(TGFBR2):c.689C>T (p.Thr230Met) rs150116445 0.00005
NM_003242.6(TGFBR2):c.91T>G (p.Ser31Ala) rs761400349 0.00005
NM_003242.6(TGFBR2):c.*1572A>G rs878857301 0.00004
NM_003242.6(TGFBR2):c.*2340T>C rs886058328 0.00004
NM_003242.6(TGFBR2):c.*352A>G rs565524213 0.00004
NM_003242.6(TGFBR2):c.*988C>T rs138036906 0.00004
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.1316T>C (p.Val439Ala) rs1050833 0.00004
NM_003242.6(TGFBR2):c.394A>G (p.Thr132Ala) rs146497045 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.696C>T (p.Ala232=) rs768508812 0.00004
NM_003242.6(TGFBR2):c.69G>T (p.Thr23=) rs878854612 0.00004
NM_003242.6(TGFBR2):c.893A>G (p.Asn298Ser) rs751587466 0.00004
NM_003242.6(TGFBR2):c.938G>A (p.Arg313Gln) rs200361387 0.00004
NM_003242.6(TGFBR2):c.95-3C>A rs375330013 0.00004
NM_003242.6(TGFBR2):c.*2425C>A rs886058329 0.00003
NM_003242.6(TGFBR2):c.*328A>C rs886058309 0.00003
NM_003242.6(TGFBR2):c.*989G>A rs886058316 0.00003
NM_003242.6(TGFBR2):c.1027A>G (p.Ser343Gly) rs758614833 0.00003
NM_003242.6(TGFBR2):c.1470C>T (p.Asn490=) rs141113059 0.00003
NM_003242.6(TGFBR2):c.374A>G (p.Glu125Gly) rs762282124 0.00003
NM_003242.6(TGFBR2):c.452A>T (p.Glu151Val) rs757051948 0.00003
NM_003242.6(TGFBR2):c.569G>A (p.Arg190His) rs780542125 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.94+16278G>C rs557449314 0.00003
NM_003242.6(TGFBR2):c.*579T>C rs1259191128 0.00002
NM_003242.6(TGFBR2):c.1042C>T (p.Arg348Cys) rs144701411 0.00002
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.1459A>C (p.Met487Leu) rs767120937 0.00002
NM_003242.6(TGFBR2):c.277G>A (p.Glu93Lys) rs766473954 0.00002
NM_003242.6(TGFBR2):c.*1201C>T rs886058318 0.00001
NM_003242.6(TGFBR2):c.*1465T>C rs1171877784 0.00001
NM_003242.6(TGFBR2):c.*1887G>A rs886058324 0.00001
NM_003242.6(TGFBR2):c.*1998G>A rs886058325 0.00001
NM_003242.6(TGFBR2):c.*820G>A rs1259248325 0.00001
NM_003242.6(TGFBR2):c.1016G>A (p.Arg339Gln) rs727503473 0.00001
NM_003242.6(TGFBR2):c.1067G>A (p.Arg356Gln) rs727504292 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.1207C>T (p.Arg403Cys) rs886038960 0.00001
NM_003242.6(TGFBR2):c.1217C>T (p.Pro406Leu) rs748480163 0.00001
NM_003242.6(TGFBR2):c.1222C>A (p.Leu408Met) rs770352403 0.00001
NM_003242.6(TGFBR2):c.1254+6T>A rs1026852885 0.00001
NM_003242.6(TGFBR2):c.1397A>T (p.Glu466Val) rs1321865816 0.00001
NM_003242.6(TGFBR2):c.1431G>C (p.Lys477Asn) rs1182402824 0.00001
NM_003242.6(TGFBR2):c.1435C>T (p.Arg479Trp) rs1444024775 0.00001
NM_003242.6(TGFBR2):c.1471G>A (p.Val491Met) rs754176932 0.00001
NM_003242.6(TGFBR2):c.1484G>A (p.Arg495Gln) rs1305853447 0.00001
NM_003242.6(TGFBR2):c.1517A>G (p.Asn506Ser) rs780087626 0.00001
NM_003242.6(TGFBR2):c.1519C>T (p.His507Tyr) rs747068726 0.00001
NM_003242.6(TGFBR2):c.1525-10C>G rs747069454 0.00001
NM_003242.6(TGFBR2):c.1525-3C>T rs774254584 0.00001
NM_003242.6(TGFBR2):c.1546A>T (p.Thr516Ser) rs370708687 0.00001
NM_003242.6(TGFBR2):c.1547C>T (p.Thr516Met) rs149847376 0.00001
NM_003242.6(TGFBR2):c.1643C>T (p.Ser548Leu) rs755070814 0.00001
NM_003242.6(TGFBR2):c.1645G>T (p.Gly549Trp) rs748418894 0.00001
NM_003242.6(TGFBR2):c.1658C>T (p.Ser553Leu) rs569635708 0.00001
NM_003242.6(TGFBR2):c.1681G>A (p.Gly561Ser) rs768103695 0.00001
NM_003242.6(TGFBR2):c.179C>T (p.Thr60Ile) rs1698701633 0.00001
NM_003242.6(TGFBR2):c.352T>C (p.Ser118Pro) rs540920930 0.00001
NM_003242.6(TGFBR2):c.403A>G (p.Met135Val) rs377455599 0.00001
NM_003242.6(TGFBR2):c.412T>G (p.Cys138Gly) rs863223838 0.00001
NM_003242.6(TGFBR2):c.43G>T (p.Val15Phe) rs1182907194 0.00001
NM_003242.6(TGFBR2):c.448T>C (p.Ser150Pro) rs1346274891 0.00001
NM_003242.6(TGFBR2):c.469A>T (p.Asn157Tyr) rs1203996192 0.00001
NM_003242.6(TGFBR2):c.505G>C (p.Gly169Arg) rs759362407 0.00001
NM_003242.6(TGFBR2):c.556T>A (p.Phe186Ile) rs368346624 0.00001
NM_003242.6(TGFBR2):c.578G>A (p.Arg193Gln) rs748437880 0.00001
NM_003242.6(TGFBR2):c.596C>T (p.Ser199Leu) rs1431838247 0.00001
NM_003242.6(TGFBR2):c.610G>A (p.Gly204Ser) rs773431795 0.00001
NM_003242.6(TGFBR2):c.619C>T (p.Arg207Trp) rs775640617 0.00001
NM_003242.6(TGFBR2):c.621G>A (p.Arg207=) rs886058304 0.00001
NM_003242.6(TGFBR2):c.640G>A (p.Glu214Lys) rs764821003 0.00001
NM_003242.6(TGFBR2):c.644A>G (p.His215Arg) rs1252128858 0.00001
NM_003242.6(TGFBR2):c.670C>T (p.Arg224Cys) rs748195637 0.00001
NM_003242.6(TGFBR2):c.740A>T (p.Asp247Val) rs761231369 0.00001
NM_003242.6(TGFBR2):c.76C>T (p.Pro26Ser) rs764160271 0.00001
NM_003242.6(TGFBR2):c.776A>G (p.Tyr259Cys) rs767919854 0.00001
NM_003242.6(TGFBR2):c.782C>T (p.Ala261Val) rs1699347160 0.00001
NM_003242.6(TGFBR2):c.803C>T (p.Ser268Leu) rs139078984 0.00001
NM_003242.6(TGFBR2):c.842A>G (p.Tyr281Cys) rs1210616464 0.00001
NM_003242.6(TGFBR2):c.851A>G (p.Tyr284Cys) rs374708133 0.00001
NM_003242.6(TGFBR2):c.94+16293C>A rs138262219 0.00001
NM_003242.6(TGFBR2):c.94+6T>G rs1269699495 0.00001
NM_003242.6(TGFBR2):c.95-2A>G rs779131465 0.00001
NM_003242.6(TGFBR2):c.95-3679C>A rs1312697004 0.00001
NM_003242.6(TGFBR2):c.953G>C (p.Gly318Ala) rs754785934 0.00001
NM_003242.6(TGFBR2):c.962A>G (p.Tyr321Cys) rs1553630191 0.00001
GRCh37/hg19 3p24.1(chr3:30729876-30730003)
NC_000003.11:g.(?_30713110)_(30715758_?)dup
NC_000003.11:g.(?_30729856)_(30730023_?)del
NC_000003.11:g.(?_30729866)_(30730013_?)del
NC_000003.11:g.(?_30732892)_(30733091_?)del
NC_000003.11:g.(?_30732902)_(30735937_?)del
NM_001407129.1(TGFBR2):c.-109C>T rs1697919506
NM_001407129.1(TGFBR2):c.-33_-12+36del rs2125438034
NM_003242.5(TGFBR2):c.-344C>A rs886058298
NM_003242.6(TGFBR2):c.*1207A>G rs1699738762
NM_003242.6(TGFBR2):c.*1211A>T rs886058319
NM_003242.6(TGFBR2):c.*1326G>A rs886058320
NM_003242.6(TGFBR2):c.*1327C>G rs1699740473
NM_003242.6(TGFBR2):c.*1715A>G rs559265897
NM_003242.6(TGFBR2):c.*1842G>T rs886058321
NM_003242.6(TGFBR2):c.*1859G>T rs886058322
NM_003242.6(TGFBR2):c.*1860C>A rs886058323
NM_003242.6(TGFBR2):c.*1887G>T rs886058324
NM_003242.6(TGFBR2):c.*1966A>G rs1699748594
NM_003242.6(TGFBR2):c.*226C>A rs886058307
NM_003242.6(TGFBR2):c.*2332A>C rs886058326
NM_003242.6(TGFBR2):c.*2335T>A rs886058327
NM_003242.6(TGFBR2):c.*2437T>A rs886058330
NM_003242.6(TGFBR2):c.*312AT[11] rs4016180
NM_003242.6(TGFBR2):c.*330_*331del rs561991238
NM_003242.6(TGFBR2):c.*33A>G rs886058306
NM_003242.6(TGFBR2):c.*598G>T rs886058311
NM_003242.6(TGFBR2):c.*704A>G rs886058312
NM_003242.6(TGFBR2):c.*713G>T rs886058313
NM_003242.6(TGFBR2):c.*793G>T rs886058314
NM_003242.6(TGFBR2):c.*799A>G rs886058315
NM_003242.6(TGFBR2):c.*859G>A rs548242538
NM_003242.6(TGFBR2):c.*997T>A rs886058317
NM_003242.6(TGFBR2):c.-13A>C rs1697931973
NM_003242.6(TGFBR2):c.-15G>C
NM_003242.6(TGFBR2):c.-18C>A rs753369354
NM_003242.6(TGFBR2):c.-228C>A rs886058300
NM_003242.6(TGFBR2):c.-249T>G rs886058299
NM_003242.6(TGFBR2):c.-26G>A rs752752584
NM_003242.6(TGFBR2):c.-5C>T
NM_003242.6(TGFBR2):c.-9G>T rs1406962229
NM_003242.6(TGFBR2):c.1002G>T (p.Gln334His) rs1699354101
NM_003242.6(TGFBR2):c.1007A>T (p.Tyr336Phe) rs1699354286
NM_003242.6(TGFBR2):c.1013C>A (p.Thr338Lys)
NM_003242.6(TGFBR2):c.1016G>C (p.Arg339Pro) rs727503473
NM_003242.6(TGFBR2):c.1016G>T (p.Arg339Leu) rs727503473
NM_003242.6(TGFBR2):c.1039del (p.Leu347fs) rs1699355189
NM_003242.6(TGFBR2):c.103G>A (p.Asp35Asn) rs984098699
NM_003242.6(TGFBR2):c.103G>C (p.Asp35His) rs984098699
NM_003242.6(TGFBR2):c.1040T>A (p.Leu347Gln)
NM_003242.6(TGFBR2):c.1047G>C (p.Lys349Asn) rs2125435790
NM_003242.6(TGFBR2):c.1056C>G (p.Ser352Arg)
NM_003242.6(TGFBR2):c.1064C>T (p.Ala355Val)
NM_003242.6(TGFBR2):c.1066C>T (p.Arg356Trp) rs199660234
NM_003242.6(TGFBR2):c.1078C>T (p.His360Tyr) rs189119533
NM_003242.6(TGFBR2):c.1085A>G (p.His362Arg) rs863223842
NM_003242.6(TGFBR2):c.1087A>G (p.Ser363Gly) rs2125436087
NM_003242.6(TGFBR2):c.1096A>G (p.Thr366Ala) rs777332888
NM_003242.6(TGFBR2):c.109A>C (p.Ile37Leu)
NM_003242.6(TGFBR2):c.109A>G (p.Ile37Val)
NM_003242.6(TGFBR2):c.1100C>T (p.Pro367Leu) rs1226482581
NM_003242.6(TGFBR2):c.1102T>A (p.Cys368Ser)
NM_003242.6(TGFBR2):c.1110G>C (p.Arg370Ser)
NM_003242.6(TGFBR2):c.1115A>G (p.Lys372Arg)
NM_003242.6(TGFBR2):c.1117A>G (p.Met373Val)
NM_003242.6(TGFBR2):c.1118T>A (p.Met373Lys) rs1699357750
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.1123A>G (p.Ile375Val)
NM_003242.6(TGFBR2):c.1126G>A (p.Val376Met) rs755967723
NM_003242.6(TGFBR2):c.1126G>C (p.Val376Leu) rs755967723
NM_003242.6(TGFBR2):c.1129del (p.His377fs)
NM_003242.6(TGFBR2):c.1135_1140del (p.Asp379_Leu380del) rs1553630282
NM_003242.6(TGFBR2):c.1142A>G (p.Lys381Arg) rs1699358560
NM_003242.6(TGFBR2):c.1143G>C (p.Lys381Asn)
NM_003242.6(TGFBR2):c.1147T>A (p.Ser383Thr)
NM_003242.6(TGFBR2):c.1148C>A (p.Ser383Tyr)
NM_003242.6(TGFBR2):c.1151A>G (p.Asn384Ser) rs193922660
NM_003242.6(TGFBR2):c.1155C>G (p.Ile385Met) rs1400565122
NM_003242.6(TGFBR2):c.1156C>T (p.Leu386Phe) rs1575158103
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.1163A>G (p.Lys388Arg) rs193922662
NM_003242.6(TGFBR2):c.1166A>G (p.Asn389Ser) rs1049576348
NM_003242.6(TGFBR2):c.1167C>G (p.Asn389Lys)
NM_003242.6(TGFBR2):c.1168G>A (p.Asp390Asn) rs2125436704
NM_003242.6(TGFBR2):c.1172T>C (p.Leu391Pro)
NM_003242.6(TGFBR2):c.1189G>T (p.Asp397Tyr) rs863223845
NM_003242.6(TGFBR2):c.1191C>G (p.Asp397Glu)
NM_003242.6(TGFBR2):c.1192T>C (p.Phe398Leu) rs2125436831
NM_003242.6(TGFBR2):c.1193T>C (p.Phe398Ser) rs1699359959
NM_003242.6(TGFBR2):c.1193T>G (p.Phe398Cys) rs1699359959
NM_003242.6(TGFBR2):c.1194T>G (p.Phe398Leu)
NM_003242.6(TGFBR2):c.1202C>G (p.Ser401Cys)
NM_003242.6(TGFBR2):c.1202C>T (p.Ser401Phe) rs1575158141
NM_003242.6(TGFBR2):c.1213G>A (p.Asp405Asn) rs1699360600
NM_003242.6(TGFBR2):c.1219A>G (p.Thr407Ala) rs1559467311
NM_003242.6(TGFBR2):c.1225T>C (p.Ser409Pro) rs1699361055
NM_003242.6(TGFBR2):c.1226C>T (p.Ser409Phe) rs1699361098
NM_003242.6(TGFBR2):c.1226_1229del (p.Ser409fs) rs1699360883
NM_003242.6(TGFBR2):c.1228G>A (p.Val410Met)
NM_003242.6(TGFBR2):c.1229T>C (p.Val410Ala)
NM_003242.6(TGFBR2):c.1231G>A (p.Asp411Asn)
NM_003242.6(TGFBR2):c.1236C>A (p.Asp412Glu) rs1699361148
NM_003242.6(TGFBR2):c.1238T>A (p.Leu413Gln) rs1559467328
NM_003242.6(TGFBR2):c.1238T>G (p.Leu413Arg)
NM_003242.6(TGFBR2):c.1240G>A (p.Ala414Thr)
NM_003242.6(TGFBR2):c.1246A>G (p.Ser416Gly) rs1060501983
NM_003242.6(TGFBR2):c.1246A>T (p.Ser416Cys) rs1060501983
NM_003242.6(TGFBR2):c.1247G>C (p.Ser416Thr)
NM_003242.6(TGFBR2):c.124A>G (p.Asn42Asp)
NM_003242.6(TGFBR2):c.1254+5G>A
NM_003242.6(TGFBR2):c.1254+8A>G rs200630803
NM_003242.6(TGFBR2):c.1264G>T (p.Ala422Ser) rs2125438757
NM_003242.6(TGFBR2):c.1274T>C (p.Met425Thr) rs1553630438
NM_003242.6(TGFBR2):c.1275G>A (p.Met425Ile)
NM_003242.6(TGFBR2):c.1275G>T (p.Met425Ile) rs1699391960
NM_003242.6(TGFBR2):c.1277C>T (p.Ala426Val) rs730880224
NM_003242.6(TGFBR2):c.127G>A (p.Gly43Ser)
NM_003242.6(TGFBR2):c.1300A>T (p.Met434Leu)
NM_003242.6(TGFBR2):c.1301T>C (p.Met434Thr) rs1575158954
NM_003242.6(TGFBR2):c.1305T>A (p.Asn435Lys) rs2125438974
NM_003242.6(TGFBR2):c.1319A>C (p.Glu440Ala) rs1699393061
NM_003242.6(TGFBR2):c.131C>T (p.Ala44Val)
NM_003242.6(TGFBR2):c.1322C>A (p.Ser441Tyr) rs1699393106
NM_003242.6(TGFBR2):c.1327A>G (p.Lys443Glu)
NM_003242.6(TGFBR2):c.1331A>G (p.Gln444Arg)
NM_003242.6(TGFBR2):c.1332G>T (p.Gln444His)
NM_003242.6(TGFBR2):c.1334C>A (p.Thr445Asn) rs886038936
NM_003242.6(TGFBR2):c.1340T>A (p.Val447Asp) rs1575158992
NM_003242.6(TGFBR2):c.1355T>C (p.Leu452Pro) rs1699393884
NM_003242.6(TGFBR2):c.1360C>T (p.Leu454Phe) rs2125439275
NM_003242.6(TGFBR2):c.1363T>A (p.Trp455Arg)
NM_003242.6(TGFBR2):c.1369A>G (p.Met457Val) rs2125439320
NM_003242.6(TGFBR2):c.136A>G (p.Lys46Glu) rs1553627148
NM_003242.6(TGFBR2):c.1371G>T (p.Met457Ile) rs1218684641
NM_003242.6(TGFBR2):c.1373C>T (p.Thr458Ile) rs1699394098
NM_003242.6(TGFBR2):c.1386T>G (p.Asn462Lys) rs2125439408
NM_003242.6(TGFBR2):c.1394G>A (p.Gly465Glu)
NM_003242.6(TGFBR2):c.1396+1G>A rs528566980
NM_003242.6(TGFBR2):c.1396+5_1396+11del rs1699394596
NM_003242.6(TGFBR2):c.1396+6T>A rs1559467901
NM_003242.6(TGFBR2):c.1397-6T>C rs2125451551
NM_003242.6(TGFBR2):c.1398A>G (p.Glu466=)
NM_003242.6(TGFBR2):c.1399G>A (p.Val467Ile)
NM_003242.6(TGFBR2):c.1405G>T (p.Asp469Tyr)
NM_003242.6(TGFBR2):c.1408T>A (p.Tyr470Asn) rs863224935
NM_003242.6(TGFBR2):c.1427C>T (p.Ser476Phe)
NM_003242.6(TGFBR2):c.1436G>A (p.Arg479Gln) rs1553631704
NM_003242.6(TGFBR2):c.1445C>A (p.Pro482His)
NM_003242.6(TGFBR2):c.1459A>G (p.Met487Val)
NM_003242.6(TGFBR2):c.145C>A (p.Gln49Lys)
NM_003242.6(TGFBR2):c.1463A>G (p.Lys488Arg)
NM_003242.6(TGFBR2):c.1469A>G (p.Asn490Ser)
NM_003242.6(TGFBR2):c.148C>G (p.Leu50Val) rs1698701049
NM_003242.6(TGFBR2):c.1490G>A (p.Arg497Gln) rs200958264
NM_003242.6(TGFBR2):c.1492C>G (p.Pro498Ala) rs1553631720
NM_003242.6(TGFBR2):c.1493C>A (p.Pro498Gln)
NM_003242.6(TGFBR2):c.1493C>G (p.Pro498Arg) rs1699661646
NM_003242.6(TGFBR2):c.1501C>T (p.Pro501Ser)
NM_003242.6(TGFBR2):c.1507T>C (p.Phe503Leu) rs772201128
NM_003242.6(TGFBR2):c.1513C>T (p.Leu505Phe)
NM_003242.6(TGFBR2):c.1518C>A (p.Asn506Lys) rs2125452270
NM_003242.6(TGFBR2):c.151T>C (p.Cys51Arg) rs1559456531
NM_003242.6(TGFBR2):c.1524+1G>A rs727503475
NM_003242.6(TGFBR2):c.1524+3A>G rs1486137817
NM_003242.6(TGFBR2):c.1524+4A>G
NM_003242.6(TGFBR2):c.1524+7A>G rs1553631728
NM_003242.6(TGFBR2):c.1525-1G>A rs1699706945
NM_003242.6(TGFBR2):c.1525G>A (p.Gly509Ser) rs1575166620
NM_003242.6(TGFBR2):c.1526G>A (p.Gly509Asp)
NM_003242.6(TGFBR2):c.1526G>T (p.Gly509Val) rs863223853
NM_003242.6(TGFBR2):c.1536G>T (p.Met512Ile)
NM_003242.6(TGFBR2):c.1537del (p.Val513fs) rs1575166637
NM_003242.6(TGFBR2):c.1549T>A (p.Leu517Met) rs1559473413
NM_003242.6(TGFBR2):c.1555G>C (p.Glu519Gln)
NM_003242.6(TGFBR2):c.1563G>A (p.Trp521Ter) rs1553631968
NM_003242.6(TGFBR2):c.1565A>C (p.Asp522Ala) rs886038768
NM_003242.6(TGFBR2):c.1570G>T (p.Asp524Tyr) rs727504421
NM_003242.6(TGFBR2):c.1574C>T (p.Pro525Leu) rs1699708427
NM_003242.6(TGFBR2):c.1577A>T (p.Glu526Val) rs1699708566
NM_003242.6(TGFBR2):c.1589C>G (p.Thr530Arg) rs1699708963
NM_003242.6(TGFBR2):c.1591G>A (p.Ala531Thr) rs727503477
NM_003242.6(TGFBR2):c.1592C>T (p.Ala531Val) rs2125455358
NM_003242.6(TGFBR2):c.1594C>T (p.Gln532Ter)
NM_003242.6(TGFBR2):c.1596G>T (p.Gln532His) rs750806566
NM_003242.6(TGFBR2):c.15_25dup (p.Leu9fs) rs1559443652
NM_003242.6(TGFBR2):c.1629T>A (p.His543Gln)
NM_003242.6(TGFBR2):c.1635C>G (p.Asp545Glu) rs1178327690
NM_003242.6(TGFBR2):c.1639C>G (p.Leu547Val) rs752099306
NM_003242.6(TGFBR2):c.1649G>A (p.Arg550Lys)
NM_003242.6(TGFBR2):c.1653_1665dup (p.Lys556fs) rs767015322
NM_003242.6(TGFBR2):c.1654T>G (p.Cys552Gly)
NM_003242.6(TGFBR2):c.1660G>A (p.Glu554Lys) rs1575166745
NM_003242.6(TGFBR2):c.1663G>A (p.Glu555Lys) rs1325892805
NM_003242.6(TGFBR2):c.1671T>G (p.Ile557Met)
NM_003242.6(TGFBR2):c.1673C>T (p.Pro558Leu)
NM_003242.6(TGFBR2):c.1676_1677del (p.Glu559fs) rs2125455762
NM_003242.6(TGFBR2):c.1678G>T (p.Asp560Tyr)
NM_003242.6(TGFBR2):c.1680C>G (p.Asp560Glu) rs376815143
NM_003242.6(TGFBR2):c.1682G>A (p.Gly561Asp) rs1559473531
NM_003242.6(TGFBR2):c.1682G>C (p.Gly561Ala) rs1559473531
NM_003242.6(TGFBR2):c.1696A>G (p.Thr566Ala)
NM_003242.6(TGFBR2):c.1697C>G (p.Thr566Ser) rs979710806
NM_003242.6(TGFBR2):c.16C>T (p.Leu6Phe)
NM_003242.6(TGFBR2):c.172T>C (p.Phe58Leu)
NM_003242.6(TGFBR2):c.175T>C (p.Ser59Pro) rs1559456557
NM_003242.6(TGFBR2):c.182G>A (p.Cys61Tyr) rs2125404783
NM_003242.6(TGFBR2):c.188A>G (p.Asn63Ser) rs1432089303
NM_003242.6(TGFBR2):c.199_203del (p.Cys67fs)
NM_003242.6(TGFBR2):c.1A>G (p.Met1Val) rs933114782
NM_003242.6(TGFBR2):c.202A>C (p.Met68Leu) rs1060501985
NM_003242.6(TGFBR2):c.202A>G (p.Met68Val)
NM_003242.6(TGFBR2):c.20G>A (p.Arg7Lys)
NM_003242.6(TGFBR2):c.215G>A (p.Ser72Asn) rs764941621
NM_003242.6(TGFBR2):c.221C>A (p.Thr74Asn)
NM_003242.6(TGFBR2):c.221C>T (p.Thr74Ile)
NM_003242.6(TGFBR2):c.253G>A (p.Val85Met) rs2125404915
NM_003242.6(TGFBR2):c.259G>C (p.Val87Leu)
NM_003242.6(TGFBR2):c.263+15_263+16insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAGCCTTTT
NM_003242.6(TGFBR2):c.263+5G>A
NM_003242.6(TGFBR2):c.263+6_263+7inv
NM_003242.6(TGFBR2):c.264-5T>G rs1315800025
NM_003242.6(TGFBR2):c.269A>C (p.Lys90Thr)
NM_003242.6(TGFBR2):c.269A>G (p.Lys90Arg)
NM_003242.6(TGFBR2):c.272A>C (p.Asn91Thr) rs1559458806
NM_003242.6(TGFBR2):c.278A>G (p.Glu93Gly) rs1182342277
NM_003242.6(TGFBR2):c.283A>G (p.Ile95Val) rs1242885838
NM_003242.6(TGFBR2):c.305A>G (p.His102Arg) rs777472799
NM_003242.6(TGFBR2):c.310C>T (p.Pro104Ser) rs193922665
NM_003242.6(TGFBR2):c.311C>G (p.Pro104Arg)
NM_003242.6(TGFBR2):c.314A>C (p.Lys105Thr)
NM_003242.6(TGFBR2):c.315G>C (p.Lys105Asn)
NM_003242.6(TGFBR2):c.319C>A (p.Pro107Thr) rs1698856374
NM_003242.6(TGFBR2):c.31C>T (p.Pro11Ser)
NM_003242.6(TGFBR2):c.325C>G (p.His109Asp) rs778838598
NM_003242.6(TGFBR2):c.346G>A (p.Ala116Thr) rs1575146526
NM_003242.6(TGFBR2):c.347C>A (p.Ala116Asp) rs779603895
NM_003242.6(TGFBR2):c.349G>T (p.Ala117Ser)
NM_003242.6(TGFBR2):c.358A>C (p.Lys120Gln) rs2125410292
NM_003242.6(TGFBR2):c.358A>G (p.Lys120Glu) rs2125410292
NM_003242.6(TGFBR2):c.364A>C (p.Ile122Leu)
NM_003242.6(TGFBR2):c.371A>C (p.Lys124Thr) rs776374040
NM_003242.6(TGFBR2):c.371A>T (p.Lys124Met) rs776374040
NM_003242.6(TGFBR2):c.374A>C (p.Glu125Ala)
NM_003242.6(TGFBR2):c.37C>A (p.His13Asn)
NM_003242.6(TGFBR2):c.383A>G (p.Lys128Arg)
NM_003242.6(TGFBR2):c.383del (p.Lys128fs) rs79375991
NM_003242.6(TGFBR2):c.383dup (p.Pro129fs) rs79375991
NM_003242.6(TGFBR2):c.385C>G (p.Pro129Ala) rs770216059
NM_003242.6(TGFBR2):c.389G>T (p.Gly130Val) rs1698859109
NM_003242.6(TGFBR2):c.394A>T (p.Thr132Ser)
NM_003242.6(TGFBR2):c.395C>T (p.Thr132Ile) rs1402755105
NM_003242.6(TGFBR2):c.413G>A (p.Cys138Tyr) rs1559458957
NM_003242.6(TGFBR2):c.416G>T (p.Ser139Ile)
NM_003242.6(TGFBR2):c.424G>A (p.Glu142Lys)
NM_003242.6(TGFBR2):c.425A>C (p.Glu142Ala)
NM_003242.6(TGFBR2):c.42C>G (p.Ile14Met) rs1697933283
NM_003242.6(TGFBR2):c.43G>A (p.Val15Ile) rs1182907194
NM_003242.6(TGFBR2):c.454+3G>A rs2125410813
NM_003242.6(TGFBR2):c.454+8_454+9del rs1489925744
NM_003242.6(TGFBR2):c.454G>A (p.Glu152Lys) rs778675253
NM_003242.6(TGFBR2):c.455-2del rs863223855
NM_003242.6(TGFBR2):c.455-3C>T
NM_003242.6(TGFBR2):c.460A>G (p.Asn154Asp)
NM_003242.6(TGFBR2):c.462C>G (p.Asn154Lys) rs1699338437
NM_003242.6(TGFBR2):c.467G>T (p.Ser156Ile) rs1699338540
NM_003242.6(TGFBR2):c.468C>G (p.Ser156Arg)
NM_003242.6(TGFBR2):c.472C>T (p.Pro158Ser) rs886058303
NM_003242.6(TGFBR2):c.476_483del (p.Asp159fs) rs1699338750
NM_003242.6(TGFBR2):c.484C>A (p.Leu162Ile)
NM_003242.6(TGFBR2):c.491T>C (p.Ile164Thr)
NM_003242.6(TGFBR2):c.497A>G (p.Gln166Arg) rs770804409
NM_003242.6(TGFBR2):c.498A>G (p.Gln166=) rs1699339065
NM_003242.6(TGFBR2):c.4G>A (p.Gly2Ser)
NM_003242.6(TGFBR2):c.500T>C (p.Val167Ala) rs779052721
NM_003242.6(TGFBR2):c.506G>T (p.Gly169Val) rs1699339733
NM_003242.6(TGFBR2):c.509T>G (p.Ile170Ser)
NM_003242.6(TGFBR2):c.533T>A (p.Val178Asp) rs1553630079
NM_003242.6(TGFBR2):c.533T>G (p.Val178Gly)
NM_003242.6(TGFBR2):c.535G>A (p.Ala179Thr)
NM_003242.6(TGFBR2):c.536C>T (p.Ala179Val)
NM_003242.6(TGFBR2):c.538A>G (p.Ile180Val) rs1699340728
NM_003242.6(TGFBR2):c.53C>T (p.Thr18Met)
NM_003242.6(TGFBR2):c.547A>G (p.Ile183Val)
NM_003242.6(TGFBR2):c.550A>C (p.Ile184Leu) rs1371905176
NM_003242.6(TGFBR2):c.550A>G (p.Ile184Val) rs1371905176
NM_003242.6(TGFBR2):c.560_562del (p.Tyr187del)
NM_003242.6(TGFBR2):c.561C>G (p.Tyr187Ter) rs2125433517
NM_003242.6(TGFBR2):c.562T>G (p.Cys188Gly)
NM_003242.6(TGFBR2):c.568C>G (p.Arg190Gly) rs758703490
NM_003242.6(TGFBR2):c.56G>A (p.Arg19His) rs763085648
NM_003242.6(TGFBR2):c.581A>T (p.Gln194Leu) rs2125433612
NM_003242.6(TGFBR2):c.58A>G (p.Ile20Val) rs1697933766
NM_003242.6(TGFBR2):c.593G>A (p.Ser198Asn)
NM_003242.6(TGFBR2):c.604G>A (p.Glu202Lys) rs1699342734
NM_003242.6(TGFBR2):c.613A>G (p.Lys205Glu)
NM_003242.6(TGFBR2):c.61G>T (p.Ala21Ser)
NM_003242.6(TGFBR2):c.620G>C (p.Arg207Pro) rs371209879
NM_003242.6(TGFBR2):c.620G>T (p.Arg207Leu)
NM_003242.6(TGFBR2):c.625C>A (p.Leu209Ile)
NM_003242.6(TGFBR2):c.625C>T (p.Leu209Phe) rs1288771489
NM_003242.6(TGFBR2):c.630G>A (p.Met210Ile) rs1699343672
NM_003242.6(TGFBR2):c.634T>C (p.Phe212Leu) rs1699343778
NM_003242.6(TGFBR2):c.645C>G (p.His215Gln) rs758827786
NM_003242.6(TGFBR2):c.647G>A (p.Cys216Tyr) rs1699344317
NM_003242.6(TGFBR2):c.656T>A (p.Ile219Asn) rs2125433876
NM_003242.6(TGFBR2):c.659T>C (p.Leu220Pro) rs1553630112
NM_003242.6(TGFBR2):c.671G>T (p.Arg224Leu)
NM_003242.6(TGFBR2):c.673T>C (p.Ser225Pro) rs1575157609
NM_003242.6(TGFBR2):c.683G>T (p.Ser228Ile) rs1559466786
NM_003242.6(TGFBR2):c.686C>T (p.Ser229Phe)
NM_003242.6(TGFBR2):c.68C>G (p.Thr23Arg)
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.735G>C (p.Glu245Asp)
NM_003242.6(TGFBR2):c.736C>T (p.Leu246=) rs886058305
NM_003242.6(TGFBR2):c.757G>A (p.Gly253Ser) rs1559466824
NM_003242.6(TGFBR2):c.758G>T (p.Gly253Val) rs1699346690
NM_003242.6(TGFBR2):c.760C>T (p.Arg254Cys) rs863223856
NM_003242.6(TGFBR2):c.766G>C (p.Ala256Pro)
NM_003242.6(TGFBR2):c.770A>G (p.Glu257Gly) rs2125434288
NM_003242.6(TGFBR2):c.773T>A (p.Val258Asp) rs869025536
NM_003242.6(TGFBR2):c.77C>T (p.Pro26Leu)
NM_003242.6(TGFBR2):c.78_79delinsAA (p.His27Asn) rs2125438820
NM_003242.6(TGFBR2):c.791A>G (p.Lys264Arg) rs868549326
NM_003242.6(TGFBR2):c.793C>G (p.Gln265Glu)
NM_003242.6(TGFBR2):c.795G>C (p.Gln265His)
NM_003242.6(TGFBR2):c.795G>T (p.Gln265His) rs1412125264
NM_003242.6(TGFBR2):c.797A>G (p.Asn266Ser) rs753184709
NM_003242.6(TGFBR2):c.7C>T (p.Arg3Trp)
NM_003242.6(TGFBR2):c.805G>T (p.Glu269Ter) rs1699347759
NM_003242.6(TGFBR2):c.807G>T (p.Glu269Asp)
NM_003242.6(TGFBR2):c.809A>G (p.Gln270Arg) rs1699347991
NM_003242.6(TGFBR2):c.826G>T (p.Val276Phe) rs1699348482
NM_003242.6(TGFBR2):c.832A>T (p.Ile278Phe) rs1559466871
NM_003242.6(TGFBR2):c.835T>C (p.Phe279Leu) rs746824357
NM_003242.6(TGFBR2):c.838C>G (p.Pro280Ala)
NM_003242.6(TGFBR2):c.840C>G (p.Pro280=) rs1699349102
NM_003242.6(TGFBR2):c.842A>T (p.Tyr281Phe) rs1210616464
NM_003242.6(TGFBR2):c.859dup (p.Trp287fs)
NM_003242.6(TGFBR2):c.869A>G (p.Glu290Gly) rs1575157782
NM_003242.6(TGFBR2):c.871_873del (p.Lys291del) rs1699349663
NM_003242.6(TGFBR2):c.874G>A (p.Asp292Asn) rs1254102909
NM_003242.6(TGFBR2):c.877A>T (p.Ile293Phe)
NM_003242.6(TGFBR2):c.878TCT[1] (p.Phe294del)
NM_003242.6(TGFBR2):c.87G>T (p.Gln29His)
NM_003242.6(TGFBR2):c.884C>T (p.Ser295Leu)
NM_003242.6(TGFBR2):c.889A>G (p.Ile297Val)
NM_003242.6(TGFBR2):c.893A>C (p.Asn298Thr)
NM_003242.6(TGFBR2):c.8G>A (p.Arg3Gln) rs780267559
NM_003242.6(TGFBR2):c.900G>T (p.Lys300Asn) rs2125434971
NM_003242.6(TGFBR2):c.901C>T (p.His301Tyr)
NM_003242.6(TGFBR2):c.904G>A (p.Glu302Lys)
NM_003242.6(TGFBR2):c.907A>C (p.Asn303His) rs773932892
NM_003242.6(TGFBR2):c.913C>T (p.Leu305Phe) rs1553630171
NM_003242.6(TGFBR2):c.914T>G (p.Leu305Arg) rs1553630174
NM_003242.6(TGFBR2):c.926C>T (p.Thr309Met)
NM_003242.6(TGFBR2):c.928G>A (p.Ala310Thr) rs1553630181
NM_003242.6(TGFBR2):c.937C>G (p.Arg313Gly)
NM_003242.6(TGFBR2):c.938G>C (p.Arg313Pro)
NM_003242.6(TGFBR2):c.938G>T (p.Arg313Leu) rs200361387
NM_003242.6(TGFBR2):c.94G>T (p.Val32Phe) rs2125438854
NM_003242.6(TGFBR2):c.95-3C>G rs375330013
NM_003242.6(TGFBR2):c.95-5_95-3del
NM_003242.6(TGFBR2):c.956A>G (p.Lys319Arg)
NM_003242.6(TGFBR2):c.960A>C (p.Gln320His)
NM_003242.6(TGFBR2):c.964T>C (p.Trp322Arg)
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.976G>A (p.Ala326Thr)
NM_003242.6(TGFBR2):c.986C>T (p.Ala329Val)
NM_003242.6(TGFBR2):c.98A>C (p.Asn33Thr) rs2125404654
NM_003242.6(TGFBR2):c.98A>G (p.Asn33Ser) rs2125404654
NM_003242.6(TGFBR2):c.997C>G (p.Leu333Val) rs1699353812

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.