ClinVar Miner

List of variants in gene TGFBR1 reported as uncertain significance for Marfan and Marfan-related disorder

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 226
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HGVS dbSNP gnomAD frequency
NM_004612.4(TGFBR1):c.*2103T>G rs7871490 0.12488
NM_004612.4(TGFBR1):c.*2112G>T rs60885995 0.03132
NM_004612.4(TGFBR1):c.*2081G>T rs200898127 0.00465
NM_004612.4(TGFBR1):c.*2092G>T rs199545273 0.00369
NM_004612.4(TGFBR1):c.*2685T>G rs145043837 0.00132
NM_004612.4(TGFBR1):c.*4623G>C rs200806851 0.00092
NM_004612.4(TGFBR1):c.*4040T>A rs41283640 0.00066
NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser) rs141259922 0.00036
NM_004612.4(TGFBR1):c.*1772A>C rs201191009 0.00035
NM_004612.4(TGFBR1):c.*4366A>G rs199892683 0.00035
NM_004612.4(TGFBR1):c.*1240G>A rs200689459 0.00034
NM_004612.4(TGFBR1):c.*311G>A rs200804500 0.00034
NM_004612.4(TGFBR1):c.*3779C>T rs201887512 0.00031
NM_004612.4(TGFBR1):c.*2095T>G rs201780012 0.00023
NM_004612.4(TGFBR1):c.*2799C>T rs200274678 0.00022
NM_004612.4(TGFBR1):c.49C>T (p.Leu17=) rs878854714 0.00020
NM_004612.4(TGFBR1):c.*3314A>G rs200374520 0.00018
NM_004612.4(TGFBR1):c.*2290T>C rs1001943455 0.00014
NM_004612.4(TGFBR1):c.*372T>C rs200786932 0.00013
NM_004612.4(TGFBR1):c.*1759C>A rs183812806 0.00012
NM_004612.4(TGFBR1):c.*3382T>G rs200080374 0.00012
NM_004612.4(TGFBR1):c.*913C>T rs201990134 0.00012
NM_004612.4(TGFBR1):c.*2410C>T rs200722893 0.00011
NM_004612.4(TGFBR1):c.120C>T (p.Leu40=) rs201267786 0.00011
NM_004612.4(TGFBR1):c.*4293A>G rs201453868 0.00010
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.*2846A>G rs200238696 0.00006
NM_004612.4(TGFBR1):c.*4356A>G rs201446431 0.00006
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.*1959G>T rs886063237 0.00003
NM_004612.4(TGFBR1):c.*3059A>G rs200138586 0.00003
NM_004612.4(TGFBR1):c.*3150C>T rs200525939 0.00003
NM_004612.4(TGFBR1):c.*4793A>G rs77001090 0.00003
NM_004612.4(TGFBR1):c.134A>G (p.Asn45Ser) rs387906696 0.00003
NM_004612.4(TGFBR1):c.926C>T (p.Thr309Met) rs200518416 0.00003
NM_004612.4(TGFBR1):c.*3482C>G rs201952588 0.00002
NM_004612.4(TGFBR1):c.*4147G>A rs570685518 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.516A>G (p.Ser172=) rs140245968 0.00002
NM_004612.4(TGFBR1):c.613A>G (p.Ile205Val) rs200018073 0.00002
NM_004612.4(TGFBR1):c.*1343T>C rs11568810 0.00001
NM_004612.4(TGFBR1):c.*1910A>G rs1251469176 0.00001
NM_004612.4(TGFBR1):c.*2409A>G rs1268827179 0.00001
NM_004612.4(TGFBR1):c.*2791G>A rs201846922 0.00001
NM_004612.4(TGFBR1):c.*2833G>A rs200520116 0.00001
NM_004612.4(TGFBR1):c.*2880C>A rs886063247 0.00001
NM_004612.4(TGFBR1):c.*2943A>G rs937916276 0.00001
NM_004612.4(TGFBR1):c.*3056C>A rs886063249 0.00001
NM_004612.4(TGFBR1):c.*3790C>T rs201101442 0.00001
NM_004612.4(TGFBR1):c.*4219G>A rs1022130561 0.00001
NM_004612.4(TGFBR1):c.*4295C>T rs199650257 0.00001
NM_004612.4(TGFBR1):c.*441C>T rs202012098 0.00001
NM_004612.4(TGFBR1):c.1022T>C (p.Val341Ala) rs1162682079 0.00001
NM_004612.4(TGFBR1):c.1211T>C (p.Met404Thr) rs1241201708 0.00001
NM_004612.4(TGFBR1):c.1425G>T (p.Trp475Cys) rs767589799 0.00001
NM_004612.4(TGFBR1):c.220G>A (p.Glu74Lys) rs998268148 0.00001
NM_004612.4(TGFBR1):c.376C>G (p.Leu126Val) rs756586874 0.00001
NM_004612.4(TGFBR1):c.434T>G (p.Val145Gly) rs775267361 0.00001
NM_004612.4(TGFBR1):c.451C>T (p.Arg151Cys) rs776680716 0.00001
NM_004612.4(TGFBR1):c.479A>G (p.Asn160Ser) rs767785290 0.00001
NM_004612.4(TGFBR1):c.527C>T (p.Thr176Met) rs745324433 0.00001
NM_004612.4(TGFBR1):c.666A>G (p.Gly222=) rs886063223 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.88G>C (p.Gly30Arg) rs1826374374 0.00001
NM_004612.4(TGFBR1):c.*1080A>C rs1461290743
NM_004612.4(TGFBR1):c.*1159T>G rs1827950323
NM_004612.4(TGFBR1):c.*1223A>G rs886063229
NM_004612.4(TGFBR1):c.*1250G>T rs886063230
NM_004612.4(TGFBR1):c.*1269T>G rs189032587
NM_004612.4(TGFBR1):c.*1368C>A rs886063231
NM_004612.4(TGFBR1):c.*1431G>T rs886063232
NM_004612.4(TGFBR1):c.*1687A>G rs886063233
NM_004612.4(TGFBR1):c.*1704G>T rs886063234
NM_004612.4(TGFBR1):c.*1787T>C rs886063235
NM_004612.4(TGFBR1):c.*1792C>A rs1827968273
NM_004612.4(TGFBR1):c.*1924G>T rs886063236
NM_004612.4(TGFBR1):c.*2101T>G rs1827975718
NM_004612.4(TGFBR1):c.*2101_*2102insGT rs886063239
NM_004612.4(TGFBR1):c.*2104_*2105insGT rs1554703244
NM_004612.4(TGFBR1):c.*2105dup rs200529894
NM_004612.4(TGFBR1):c.*2106G>T rs201054018
NM_004612.4(TGFBR1):c.*2106GTT[2] rs886063241
NM_004612.4(TGFBR1):c.*2279T>C rs886063242
NM_004612.4(TGFBR1):c.*2411G>C rs11568813
NM_004612.4(TGFBR1):c.*247T>C rs1827918720
NM_004612.4(TGFBR1):c.*250T>A rs1827918871
NM_004612.4(TGFBR1):c.*2547A>G rs886063243
NM_004612.4(TGFBR1):c.*2554A>T rs1827986039
NM_004612.4(TGFBR1):c.*2634TCT[1] rs886063244
NM_004612.4(TGFBR1):c.*2713G>T rs886063245
NM_004612.4(TGFBR1):c.*2768T>A rs886063246
NM_004612.4(TGFBR1):c.*2980G>T rs886063248
NM_004612.4(TGFBR1):c.*3095A>G rs1828003249
NM_004612.4(TGFBR1):c.*309C>T rs886063226
NM_004612.4(TGFBR1):c.*3317C>G rs201113438
NM_004612.4(TGFBR1):c.*339G>T rs199861787
NM_004612.4(TGFBR1):c.*3432G>T rs886063251
NM_004612.4(TGFBR1):c.*3567G>A rs886063252
NM_004612.4(TGFBR1):c.*3716T>C rs886063253
NM_004612.4(TGFBR1):c.*3839A>C rs906560184
NM_004612.4(TGFBR1):c.*3881G>T rs886063254
NM_004612.4(TGFBR1):c.*3C>A
NM_004612.4(TGFBR1):c.*4055G>T rs886063255
NM_004612.4(TGFBR1):c.*4088G>T rs886063256
NM_004612.4(TGFBR1):c.*408C>T rs941101059
NM_004612.4(TGFBR1):c.*4278C>T rs200414044
NM_004612.4(TGFBR1):c.*4445C>G rs202020004
NM_004612.4(TGFBR1):c.*4467C>A rs886063257
NM_004612.4(TGFBR1):c.*456G>T rs200245567
NM_004612.4(TGFBR1):c.*469T>C rs1827927207
NM_004612.4(TGFBR1):c.*4804dup rs561572489
NM_004612.4(TGFBR1):c.*502T>G rs201269197
NM_004612.4(TGFBR1):c.*512_*516del rs777186940
NM_004612.4(TGFBR1):c.*709C>T rs886063228
NM_004612.4(TGFBR1):c.*756C>A rs200926268
NM_004612.4(TGFBR1):c.1000T>G (p.Leu334Val)
NM_004612.4(TGFBR1):c.1017C>G (p.Ile339Met)
NM_004612.4(TGFBR1):c.1019del (p.Leu340fs)
NM_004612.4(TGFBR1):c.1046T>C (p.Ile349Thr)
NM_004612.4(TGFBR1):c.1065A>G (p.Ala355=) rs758280185
NM_004612.4(TGFBR1):c.1073A>G (p.His358Arg)
NM_004612.4(TGFBR1):c.1131-11A>T
NM_004612.4(TGFBR1):c.1133A>G (p.Tyr378Cys) rs2118826506
NM_004612.4(TGFBR1):c.117C>T (p.His39=)
NM_004612.4(TGFBR1):c.1196C>G (p.Ala399Gly) rs1827802075
NM_004612.4(TGFBR1):c.1201A>G (p.Ile401Val)
NM_004612.4(TGFBR1):c.1208C>G (p.Ala403Gly)
NM_004612.4(TGFBR1):c.1216T>A (p.Leu406Ile) rs200062984
NM_004612.4(TGFBR1):c.1222T>A (p.Phe408Ile) rs1827803560
NM_004612.4(TGFBR1):c.1224C>G (p.Phe408Leu)
NM_004612.4(TGFBR1):c.122_123del (p.Cys41fs)
NM_004612.4(TGFBR1):c.1238G>A (p.Arg413Gln)
NM_004612.4(TGFBR1):c.1241G>A (p.Arg414Gln)
NM_004612.4(TGFBR1):c.1249A>T (p.Ile417Phe)
NM_004612.4(TGFBR1):c.1253G>C (p.Gly418Ala)
NM_004612.4(TGFBR1):c.1255+7del
NM_004612.4(TGFBR1):c.1256-3C>A rs755431191
NM_004612.4(TGFBR1):c.1283A>G (p.Tyr428Cys)
NM_004612.4(TGFBR1):c.1310C>T (p.Ser437Leu) rs1827842067
NM_004612.4(TGFBR1):c.1360A>G (p.Ile454Val) rs1827845172
NM_004612.4(TGFBR1):c.1382G>A (p.Cys461Tyr)
NM_004612.4(TGFBR1):c.1387-4G>A rs397517031
NM_004612.4(TGFBR1):c.1399A>G (p.Met467Val)
NM_004612.4(TGFBR1):c.1424G>C (p.Trp475Ser)
NM_004612.4(TGFBR1):c.1426T>A (p.Tyr476Asn)
NM_004612.4(TGFBR1):c.1438G>A (p.Ala480Thr)
NM_004612.4(TGFBR1):c.1442C>T (p.Ala481Val)
NM_004612.4(TGFBR1):c.1443T>A (p.Ala481=) rs886063225
NM_004612.4(TGFBR1):c.1451C>G (p.Thr484Arg)
NM_004612.4(TGFBR1):c.1475_1477del (p.Leu492del)
NM_004612.4(TGFBR1):c.1488T>A (p.Ser496Arg)
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.283G>A (p.Val95Met) rs1827129569
NM_004612.4(TGFBR1):c.296A>G (p.Tyr99Cys) rs1360080681
NM_004612.4(TGFBR1):c.305A>G (p.Asn102Ser)
NM_004612.4(TGFBR1):c.308A>G (p.Gln103Arg)
NM_004612.4(TGFBR1):c.313dup (p.His105fs)
NM_004612.4(TGFBR1):c.324A>C (p.Lys108Asn)
NM_004612.4(TGFBR1):c.331C>G (p.Leu111Val) rs1244225435
NM_004612.4(TGFBR1):c.344-15G>A
NM_004612.4(TGFBR1):c.344-74del rs193922675
NM_004612.4(TGFBR1):c.363_364insTCA (p.Leu121_Gly122insSer) rs2118625345
NM_004612.4(TGFBR1):c.367C>G (p.Pro123Ala)
NM_004612.4(TGFBR1):c.397C>T (p.Pro133Ser)
NM_004612.4(TGFBR1):c.398C>T (p.Pro133Leu) rs1827269407
NM_004612.4(TGFBR1):c.409G>A (p.Val137Ile) rs745576967
NM_004612.4(TGFBR1):c.41T>C (p.Leu14Pro) rs1826371375
NM_004612.4(TGFBR1):c.421C>T (p.Leu141Phe)
NM_004612.4(TGFBR1):c.463C>T (p.His155Tyr)
NM_004612.4(TGFBR1):c.470G>A (p.Arg157Gln) rs147146713
NM_004612.4(TGFBR1):c.490C>T (p.Pro164Ser) rs886063222
NM_004612.4(TGFBR1):c.500A>C (p.Asp167Ala) rs1060502044
NM_004612.4(TGFBR1):c.52GCG[13] (p.Ala23_Ala26dup) rs11466445
NM_004612.4(TGFBR1):c.52GCG[3] (p.Ala21_Ala26del) rs11466445
NM_004612.4(TGFBR1):c.52GCG[6] (p.Ala24_Ala26del) rs11466445
NM_004612.4(TGFBR1):c.551T>C (p.Met184Thr)
NM_004612.4(TGFBR1):c.569G>T (p.Gly190Val) rs2118632040
NM_004612.4(TGFBR1):c.575-4_575-3dup
NM_004612.4(TGFBR1):c.582A>G (p.Pro194=) rs200679996
NM_004612.4(TGFBR1):c.592C>G (p.Gln198Glu)
NM_004612.4(TGFBR1):c.611C>T (p.Thr204Ile) rs886039068
NM_004612.4(TGFBR1):c.655G>T (p.Val219Phe) rs863223810
NM_004612.4(TGFBR1):c.680A>C (p.Glu227Ala)
NM_004612.4(TGFBR1):c.691G>A (p.Val231Ile)
NM_004612.4(TGFBR1):c.701T>G (p.Phe234Cys)
NM_004612.4(TGFBR1):c.730C>G (p.Arg244Gly)
NM_004612.4(TGFBR1):c.730C>T (p.Arg244Cys) rs2118718530
NM_004612.4(TGFBR1):c.734A>C (p.Glu245Ala) rs1554700650
NM_004612.4(TGFBR1):c.760T>G (p.Leu254Val)
NM_004612.4(TGFBR1):c.763C>T (p.Arg255Cys) rs1588585570
NM_004612.4(TGFBR1):c.805+5_805+6del rs2118724763
NM_004612.4(TGFBR1):c.805+5del rs1300823570
NM_004612.4(TGFBR1):c.806-14A>G
NM_004612.4(TGFBR1):c.808A>G (p.Asn270Asp)
NM_004612.4(TGFBR1):c.809A>G (p.Asn270Ser) rs201475375
NM_004612.4(TGFBR1):c.828C>G (p.Leu276=) rs886063224
NM_004612.4(TGFBR1):c.835G>C (p.Val279Leu) rs112300506
NM_004612.4(TGFBR1):c.847_849del (p.His283del) rs1588590301
NM_004612.4(TGFBR1):c.848A>G (p.His283Arg) rs1064796037
NM_004612.4(TGFBR1):c.848A>T (p.His283Leu)
NM_004612.4(TGFBR1):c.854A>G (p.His285Arg) rs1588590331
NM_004612.4(TGFBR1):c.872A>G (p.Tyr291Cys)
NM_004612.4(TGFBR1):c.886A>G (p.Thr296Ala)
NM_004612.4(TGFBR1):c.892A>C (p.Thr298Pro)
NM_004612.4(TGFBR1):c.896T>C (p.Val299Ala)
NM_004612.4(TGFBR1):c.899A>G (p.Glu300Gly) rs2118779242
NM_004612.4(TGFBR1):c.940G>T (p.Ala314Ser) rs1209722877
NM_004612.4(TGFBR1):c.957G>T (p.Glu319Asp) rs2118780957
NM_004612.4(TGFBR1):c.961G>T (p.Val321Phe) rs1827655038
NM_004612.4(TGFBR1):c.97+15GGCG[4] rs886063221
NM_004612.4(TGFBR1):c.98-1G>A
NM_004612.4(TGFBR1):c.98C>T (p.Ala33Val) rs1554698880
NM_004612.4(TGFBR1):c.993T>C (p.His331=)
NM_004612.4(TGFBR1):c.994A>G (p.Arg332Gly) rs2118804018

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