ClinVar Miner

List of variants in gene TGFBR1 reported as likely benign for cardiovascular disorder

Included ClinVar conditions (1435):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 283
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HGVS dbSNP gnomAD frequency
NM_004612.4(TGFBR1):c.*4300C>T rs41283642 0.02037
NM_004612.4(TGFBR1):c.*4499G>A rs79641064 0.01970
NM_004612.4(TGFBR1):c.*2703G>A rs76392135 0.01278
NM_004612.4(TGFBR1):c.*1428G>C rs11568811 0.00845
NM_004612.4(TGFBR1):c.*2645A>C rs17724567 0.00660
NM_004612.4(TGFBR1):c.*360A>G rs145692006 0.00493
NM_004612.4(TGFBR1):c.*3261T>C rs117440593 0.00406
NM_004612.4(TGFBR1):c.*3262C>T rs78385793 0.00377
NM_004612.4(TGFBR1):c.*3192T>C rs148797981 0.00356
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) rs7861780 0.00288
NM_004612.4(TGFBR1):c.*1515G>A rs11568812 0.00279
NM_004612.4(TGFBR1):c.*4202A>G rs200206515 0.00278
NM_004612.4(TGFBR1):c.*566T>C rs11568808 0.00275
NM_004612.4(TGFBR1):c.*4565T>C rs138721378 0.00273
NM_004612.4(TGFBR1):c.*4493G>A rs41274644 0.00250
NM_004612.4(TGFBR1):c.*2100T>G rs532530728 0.00223
NM_004612.4(TGFBR1):c.*1183G>A rs184564501 0.00209
NM_004612.4(TGFBR1):c.*4809A>T rs185400896 0.00156
NM_004612.4(TGFBR1):c.*2685T>G rs145043837 0.00132
NM_004612.4(TGFBR1):c.457G>A (p.Val153Ile) rs56014374 0.00115
NM_004612.4(TGFBR1):c.*4623G>C rs200806851 0.00092
NM_004612.4(TGFBR1):c.192A>G (p.Lys64=) rs112051451 0.00081
NM_004612.4(TGFBR1):c.*1804A>G rs200656974 0.00068
NM_004612.4(TGFBR1):c.46G>A (p.Val16Met) rs1021523079 0.00055
NM_004612.4(TGFBR1):c.*2005T>G rs144216869 0.00040
NM_004612.4(TGFBR1):c.*4728G>A rs187415138 0.00035
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.49C>T (p.Leu17=) rs878854714 0.00020
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.*1659T>C rs200082162 0.00017
NM_004612.4(TGFBR1):c.*3798G>A rs141277814 0.00017
NM_004612.4(TGFBR1):c.*2179del rs373576679 0.00016
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.973+19C>A rs183796807 0.00011
NM_004612.4(TGFBR1):c.*3704A>G rs563433922 0.00009
NM_004612.4(TGFBR1):c.*3830T>C rs186157987 0.00009
NM_004612.4(TGFBR1):c.*4356A>G rs201446431 0.00006
NM_004612.4(TGFBR1):c.574+18C>T rs370062838 0.00006
NM_004612.4(TGFBR1):c.973+9A>G rs763793570 0.00006
NM_004612.4(TGFBR1):c.*1710G>A rs200197062 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.318C>T (p.Cys106=) rs149417020 0.00004
NM_004612.4(TGFBR1):c.1256-13T>A rs200979110 0.00003
NM_004612.4(TGFBR1):c.87G>C (p.Pro29=) rs1246631676 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.1256-17T>G rs766657892 0.00002
NM_004612.4(TGFBR1):c.1275A>G (p.Gln425=) rs753301297 0.00002
NM_004612.4(TGFBR1):c.1387-16T>A rs199541766 0.00002
NM_004612.4(TGFBR1):c.199C>T (p.His67Tyr) rs766157497 0.00002
NM_004612.4(TGFBR1):c.343+3A>G rs374717754 0.00002
NM_004612.4(TGFBR1):c.42C>T (p.Leu14=) rs1473259643 0.00002
NM_004612.4(TGFBR1):c.495A>G (p.Ser165=) rs753147276 0.00002
NM_004612.4(TGFBR1):c.503G>A (p.Arg168His) rs777965779 0.00002
NM_004612.4(TGFBR1):c.516A>G (p.Ser172=) rs140245968 0.00002
NM_004612.4(TGFBR1):c.575-18A>G rs1462573406 0.00002
NM_004612.4(TGFBR1):c.98-5T>C rs771169283 0.00002
NM_004612.4(TGFBR1):c.98-6T>C rs749295577 0.00002
NM_004612.4(TGFBR1):c.*789G>A rs200428927 0.00001
NM_004612.4(TGFBR1):c.1008A>G (p.Ser336=) rs761512764 0.00001
NM_004612.4(TGFBR1):c.1104T>G (p.Ala368=) rs1060504426 0.00001
NM_004612.4(TGFBR1):c.1131-10T>A rs1390613164 0.00001
NM_004612.4(TGFBR1):c.1131-8T>A rs1827799094 0.00001
NM_004612.4(TGFBR1):c.1236T>G (p.Ala412=) rs895357571 0.00001
NM_004612.4(TGFBR1):c.1255+11C>G rs751914671 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+9T>C rs1404023604 0.00001
NM_004612.4(TGFBR1):c.1387-8T>C rs768669432 0.00001
NM_004612.4(TGFBR1):c.249G>A (p.Pro83=) rs200091200 0.00001
NM_004612.4(TGFBR1):c.344-16C>T rs186017492 0.00001
NM_004612.4(TGFBR1):c.345A>G (p.Val115=) rs766347880 0.00001
NM_004612.4(TGFBR1):c.466C>T (p.His156Tyr) rs1184553647 0.00001
NM_004612.4(TGFBR1):c.480T>C (p.Asn160=) rs1234201885 0.00001
NM_004612.4(TGFBR1):c.561A>G (p.Ser187=) rs1315925147 0.00001
NM_004612.4(TGFBR1):c.575-6C>T rs768187352 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.666A>G (p.Gly222=) rs886063223 0.00001
NM_004612.4(TGFBR1):c.720T>C (p.Arg240=) rs200078591 0.00001
NM_004612.4(TGFBR1):c.805+11T>A rs1445515504 0.00001
NM_004612.4(TGFBR1):c.813T>C (p.Gly271=) rs200511345 0.00001
NM_004612.4(TGFBR1):c.816T>C (p.Thr272=) rs1827646085 0.00001
NM_004612.4(TGFBR1):c.888A>G (p.Thr296=) rs201943631 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.969C>T (p.Thr323=) rs1192456677 0.00001
NM_004612.4(TGFBR1):c.97+14C>T rs1198082830 0.00001
NM_004612.4(TGFBR1):c.99G>A (p.Ala33=) rs779055286 0.00001
NM_004612.4(TGFBR1):c.*2086T>G rs148063684
NM_004612.4(TGFBR1):c.*3430del rs78078491
NM_004612.4(TGFBR1):c.102A>G (p.Leu34=) rs2118563191
NM_004612.4(TGFBR1):c.1038T>G (p.Thr346=) rs2118804875
NM_004612.4(TGFBR1):c.1054T>C (p.Leu352=)
NM_004612.4(TGFBR1):c.1071A>G (p.Arg357=) rs2118806030
NM_004612.4(TGFBR1):c.1080A>C (p.Ser360=)
NM_004612.4(TGFBR1):c.1092C>T (p.Thr364=)
NM_004612.4(TGFBR1):c.1104T>C (p.Ala368=)
NM_004612.4(TGFBR1):c.1107A>C (p.Pro369=) rs1827742534
NM_004612.4(TGFBR1):c.1107A>G (p.Pro369=) rs1827742534
NM_004612.4(TGFBR1):c.1125A>G (p.Thr375=) rs7861780
NM_004612.4(TGFBR1):c.1130+14C>A
NM_004612.4(TGFBR1):c.1130+16A>C rs2118807823
NM_004612.4(TGFBR1):c.1130+19A>G
NM_004612.4(TGFBR1):c.1130+20T>G
NM_004612.4(TGFBR1):c.1130+7T>G rs2118807692
NM_004612.4(TGFBR1):c.1130+9T>C
NM_004612.4(TGFBR1):c.1131-11A>T
NM_004612.4(TGFBR1):c.1131-12A>C
NM_004612.4(TGFBR1):c.1131-16T>C
NM_004612.4(TGFBR1):c.1131-19T>G
NM_004612.4(TGFBR1):c.1131-8T>C
NM_004612.4(TGFBR1):c.1131-8T>G rs1827799094
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.1143T>C (p.Pro381=)
NM_004612.4(TGFBR1):c.1152C>G (p.Leu384=)
NM_004612.4(TGFBR1):c.1173A>G (p.Lys391=)
NM_004612.4(TGFBR1):c.1194T>C (p.Arg398=)
NM_004612.4(TGFBR1):c.1203C>A (p.Ile401=)
NM_004612.4(TGFBR1):c.120C>G (p.Leu40=) rs201267786
NM_004612.4(TGFBR1):c.1218A>G (p.Leu406=) rs757399188
NM_004612.4(TGFBR1):c.1230A>G (p.Glu410=)
NM_004612.4(TGFBR1):c.1255+16C>T
NM_004612.4(TGFBR1):c.1255+19C>T
NM_004612.4(TGFBR1):c.1256-12A>T
NM_004612.4(TGFBR1):c.1256-9C>A rs200369181
NM_004612.4(TGFBR1):c.1256-9C>T
NM_004612.4(TGFBR1):c.126A>G (p.Thr42=) rs1827122219
NM_004612.4(TGFBR1):c.1278G>A (p.Leu426=)
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.1287T>C (p.Tyr429=) rs1324785971
NM_004612.4(TGFBR1):c.1311A>C (p.Ser437=) rs1554702468
NM_004612.4(TGFBR1):c.1311A>T (p.Ser437=) rs1554702468
NM_004612.4(TGFBR1):c.1317A>G (p.Glu439=)
NM_004612.4(TGFBR1):c.132C>T (p.Asp44=)
NM_004612.4(TGFBR1):c.1386+17G>T
NM_004612.4(TGFBR1):c.1386+8T>A rs2118841327
NM_004612.4(TGFBR1):c.1387-14A>T rs201772204
NM_004612.4(TGFBR1):c.1387-15T>A rs200789509
NM_004612.4(TGFBR1):c.1387-4G>A rs397517031
NM_004612.4(TGFBR1):c.1387-4G>C
NM_004612.4(TGFBR1):c.1387-7C>A
NM_004612.4(TGFBR1):c.1389C>G (p.Ala463=)
NM_004612.4(TGFBR1):c.1389C>T (p.Ala463=) rs1266698972
NM_004612.4(TGFBR1):c.1398A>G (p.Val466=)
NM_004612.4(TGFBR1):c.1404T>C (p.Ala468=) rs2118855398
NM_004612.4(TGFBR1):c.1414A>C (p.Arg472=)
NM_004612.4(TGFBR1):c.1416A>G (p.Arg472=)
NM_004612.4(TGFBR1):c.1428T>C (p.Tyr476=) rs1827899944
NM_004612.4(TGFBR1):c.1443T>C (p.Ala481=) rs886063225
NM_004612.4(TGFBR1):c.1446G>A (p.Arg482=) rs1588598651
NM_004612.4(TGFBR1):c.1452A>T (p.Thr484=)
NM_004612.4(TGFBR1):c.1455A>G (p.Ala485=)
NM_004612.4(TGFBR1):c.1456T>C (p.Leu486=) rs111818778
NM_004612.4(TGFBR1):c.1459C>A (p.Arg487=)
NM_004612.4(TGFBR1):c.1476A>G (p.Leu492=)
NM_004612.4(TGFBR1):c.1479G>C (p.Ser493=)
NM_004612.4(TGFBR1):c.1512A>G (p.Ter504=) rs1827906070
NM_004612.4(TGFBR1):c.156G>A (p.Gly52=)
NM_004612.4(TGFBR1):c.156G>C (p.Gly52=)
NM_004612.4(TGFBR1):c.159C>T (p.Leu53=)
NM_004612.4(TGFBR1):c.204C>T (p.Asn68=) rs1057521532
NM_004612.4(TGFBR1):c.225T>A (p.Ile75=) rs200543076
NM_004612.4(TGFBR1):c.237T>C (p.Pro79=)
NM_004612.4(TGFBR1):c.240A>G (p.Arg80=)
NM_004612.4(TGFBR1):c.243T>C (p.Asp81=)
NM_004612.4(TGFBR1):c.255A>G (p.Val85=)
NM_004612.4(TGFBR1):c.276T>C (p.Thr92=) rs1383627671
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.300C>T (p.Cys100=) rs2118574233
NM_004612.4(TGFBR1):c.343+12A>G
NM_004612.4(TGFBR1):c.343+14A>C
NM_004612.4(TGFBR1):c.343+15A>T
NM_004612.4(TGFBR1):c.343+16T>A
NM_004612.4(TGFBR1):c.344-16C>G rs186017492
NM_004612.4(TGFBR1):c.351A>G (p.Ser117=) rs949763129
NM_004612.4(TGFBR1):c.355C>T (p.Pro119Ser)
NM_004612.4(TGFBR1):c.369T>G (p.Pro123=) rs773635581
NM_004612.4(TGFBR1):c.36G>A (p.Leu12=) rs2118164001
NM_004612.4(TGFBR1):c.376C>T (p.Leu126=)
NM_004612.4(TGFBR1):c.378G>A (p.Leu126=)
NM_004612.4(TGFBR1):c.387C>G (p.Val129=)
NM_004612.4(TGFBR1):c.396A>G (p.Gly132=)
NM_004612.4(TGFBR1):c.39C>G (p.Leu13=)
NM_004612.4(TGFBR1):c.408C>T (p.Phe136=) rs773845018
NM_004612.4(TGFBR1):c.414C>T (p.Cys138=) rs1827270962
NM_004612.4(TGFBR1):c.423C>G (p.Leu141=) rs1564153944
NM_004612.4(TGFBR1):c.435C>G (p.Val145=)
NM_004612.4(TGFBR1):c.452G>A (p.Arg151His)
NM_004612.4(TGFBR1):c.453C>T (p.Arg151=)
NM_004612.4(TGFBR1):c.45C>T (p.Leu15=)
NM_004612.4(TGFBR1):c.471A>T (p.Arg157=) rs1827275983
NM_004612.4(TGFBR1):c.483A>G (p.Glu161=)
NM_004612.4(TGFBR1):c.51G>C (p.Leu17=)
NM_004612.4(TGFBR1):c.525T>A (p.Thr175=) rs1564154343
NM_004612.4(TGFBR1):c.529T>C (p.Leu177=) rs1827279899
NM_004612.4(TGFBR1):c.52GCG[10] (p.Ala26dup) rs11466445
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[4] (p.Ala22_Ala26del) rs11466445
NM_004612.4(TGFBR1):c.52GCG[5] (p.Ala23_Ala26del) rs11466445
NM_004612.4(TGFBR1):c.52GCG[6] (p.Ala24_Ala26del) rs11466445
NM_004612.4(TGFBR1):c.52GCG[8] (p.Ala26del) rs11466445
NM_004612.4(TGFBR1):c.538T>C (p.Leu180=) rs1827280418
NM_004612.4(TGFBR1):c.555A>G (p.Thr185=)
NM_004612.4(TGFBR1):c.558G>A (p.Thr186=) rs538382054
NM_004612.4(TGFBR1):c.574+12G>A
NM_004612.4(TGFBR1):c.574+13T>C
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.588T>G (p.Leu196=)
NM_004612.4(TGFBR1):c.603T>C (p.Ile201=) rs1326484806
NM_004612.4(TGFBR1):c.606G>C (p.Ala202=) rs201497553
NM_004612.4(TGFBR1):c.618G>T (p.Val206=) rs1057523644
NM_004612.4(TGFBR1):c.651A>G (p.Gly217=) rs1321254948
NM_004612.4(TGFBR1):c.654A>G (p.Glu218=)
NM_004612.4(TGFBR1):c.66G>A (p.Ala22=)
NM_004612.4(TGFBR1):c.690T>C (p.Ala230=)
NM_004612.4(TGFBR1):c.699A>T (p.Ile233=)
NM_004612.4(TGFBR1):c.702C>T (p.Phe234=) rs202156059
NM_004612.4(TGFBR1):c.705C>G (p.Ser235=) rs1325342802
NM_004612.4(TGFBR1):c.720T>A (p.Arg240=) rs200078591
NM_004612.4(TGFBR1):c.723G>A (p.Ser241=) rs201112150
NM_004612.4(TGFBR1):c.723G>C (p.Ser241=)
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.744T>C (p.Ile248=)
NM_004612.4(TGFBR1):c.756A>C (p.Val252=)
NM_004612.4(TGFBR1):c.75G>T (p.Ala25=)
NM_004612.4(TGFBR1):c.760T>C (p.Leu254=)
NM_004612.4(TGFBR1):c.765T>A (p.Arg255=)
NM_004612.4(TGFBR1):c.768T>C (p.His256=)
NM_004612.4(TGFBR1):c.777C>T (p.Ile259=)
NM_004612.4(TGFBR1):c.795A>C (p.Ala265=) rs200158200
NM_004612.4(TGFBR1):c.805+10A>G rs1588585657
NM_004612.4(TGFBR1):c.816T>A (p.Thr272=)
NM_004612.4(TGFBR1):c.822T>G (p.Thr274=) rs1588590268
NM_004612.4(TGFBR1):c.828C>G (p.Leu276=) rs886063224
NM_004612.4(TGFBR1):c.84C>T (p.Leu28=)
NM_004612.4(TGFBR1):c.867T>C (p.Phe289=)
NM_004612.4(TGFBR1):c.903A>G (p.Gly301=)
NM_004612.4(TGFBR1):c.921G>A (p.Leu307=) rs2118779757
NM_004612.4(TGFBR1):c.930G>T (p.Ala310=)
NM_004612.4(TGFBR1):c.951C>T (p.His317=) rs2118780749
NM_004612.4(TGFBR1):c.97+12C>G
NM_004612.4(TGFBR1):c.97+15GGCG[2]
NM_004612.4(TGFBR1):c.97+15GGCG[4] rs886063221
NM_004612.4(TGFBR1):c.97+16G>A
NM_004612.4(TGFBR1):c.97+17C>A rs2118167539
NM_004612.4(TGFBR1):c.97+18G>A
NM_004612.4(TGFBR1):c.97+26_97+44dup
NM_004612.4(TGFBR1):c.97+27_97+41dup rs1554695435
NM_004612.4(TGFBR1):c.97+4_97+22dup
NM_004612.4(TGFBR1):c.97+7G>A
NM_004612.4(TGFBR1):c.97+7G>C
NM_004612.4(TGFBR1):c.973+17T>A
NM_004612.4(TGFBR1):c.973+17T>C
NM_004612.4(TGFBR1):c.973+19C>G
NM_004612.4(TGFBR1):c.973+7C>T
NM_004612.4(TGFBR1):c.973+9dup rs2118781570
NM_004612.4(TGFBR1):c.974-4T>A
NM_004612.4(TGFBR1):c.974-6C>A
NM_004612.4(TGFBR1):c.98-17T>C
NM_004612.4(TGFBR1):c.98-18A>T
NM_004612.4(TGFBR1):c.98-19A>C
NM_004612.4(TGFBR1):c.993T>C (p.His331=)

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