ClinVar Miner

List of variants in gene TGFBR1 studied 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: 211
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HGVS dbSNP gnomAD frequency
NM_004612.4(TGFBR1):c.*4578T>G rs1590 0.28501
NM_004612.4(TGFBR1):c.*884A>G rs334348 0.28211
NM_004612.4(TGFBR1):c.*2800G>A rs334349 0.27616
NM_004612.4(TGFBR1):c.*2103_*2104insG rs36064078 0.25780
NM_004612.4(TGFBR1):c.1255+24G>A rs334354 0.22164
NM_004612.4(TGFBR1):c.*69A>G rs868 0.17222
NM_004612.4(TGFBR1):c.*3286G>C rs420549 0.16407
NM_004612.4(TGFBR1):c.*2103T>G rs7871490 0.12488
NM_004612.4(TGFBR1):c.*4489T>C rs7850895 0.07302
NM_004612.4(TGFBR1):c.*2112G>T rs60885995 0.03132
NM_004612.4(TGFBR1):c.*3225G>A rs3739798 0.02363
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.*2081G>T rs200898127 0.00465
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.*2092G>T rs199545273 0.00369
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.*1804A>G rs200656974 0.00068
NM_004612.4(TGFBR1):c.*4040T>A rs41283640 0.00066
NM_004612.4(TGFBR1):c.*2005T>G rs144216869 0.00040
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.*4728G>A rs187415138 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.528G>A (p.Thr176=) rs190878719 0.00026
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.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.*3314A>G rs200374520 0.00018
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.*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.*3704A>G rs563433922 0.00009
NM_004612.4(TGFBR1):c.*3830T>C rs186157987 0.00009
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.*1710G>A rs200197062 0.00005
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.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.*789G>A rs200428927 0.00001
NM_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln) rs113605875 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.521G>T (p.Gly174Val) rs121918713 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.889G>A (p.Val297Ile) rs757284158 0.00001
NM_004612.4(TGFBR1):c.88G>C (p.Gly30Arg) rs1826374374 0.00001
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser) rs760079636 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.*2086T>G rs148063684
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.*3430del rs78078491
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.*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.1058G>T (p.Gly353Val) rs1554701911
NM_004612.4(TGFBR1):c.1060C>A (p.Leu354Met)
NM_004612.4(TGFBR1):c.1061T>C (p.Leu354Pro) rs1554701914
NM_004612.4(TGFBR1):c.1065A>G (p.Ala355=) rs758280185
NM_004612.4(TGFBR1):c.1198G>A (p.Asp400Asn) rs2118827924
NM_004612.4(TGFBR1):c.1199A>G (p.Asp400Gly) rs121918711
NM_004612.4(TGFBR1):c.1421G>A (p.Cys474Tyr) rs1827899415
NM_004612.4(TGFBR1):c.1442C>T (p.Ala481Val)
NM_004612.4(TGFBR1):c.1443T>A (p.Ala481=) rs886063225
NM_004612.4(TGFBR1):c.1444A>G (p.Arg482Gly) rs730880223
NM_004612.4(TGFBR1):c.1446G>C (p.Arg482Ser)
NM_004612.4(TGFBR1):c.1446G>T (p.Arg482Ser) rs1588598651
NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp) rs111426349
NM_004612.4(TGFBR1):c.1460G>C (p.Arg487Pro) rs113605875
NM_004612.4(TGFBR1):c.1468A>G (p.Lys490Glu)
NM_004612.4(TGFBR1):c.1488T>A (p.Ser496Arg)
NM_004612.4(TGFBR1):c.191A>G (p.Lys64Arg) rs886042300
NM_004612.4(TGFBR1):c.296A>G (p.Tyr99Cys) rs1360080681
NM_004612.4(TGFBR1):c.344-74del rs193922675
NM_004612.4(TGFBR1):c.363_364insTCA (p.Leu121_Gly122insSer) rs2118625345
NM_004612.4(TGFBR1):c.41T>C (p.Leu14Pro) rs1826371375
NM_004612.4(TGFBR1):c.487del (p.Asp163fs) rs1827276619
NM_004612.4(TGFBR1):c.490C>T (p.Pro164Ser) rs886063222
NM_004612.4(TGFBR1):c.529T>C (p.Leu177=) rs1827279899
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.569G>T (p.Gly190Val) rs2118632040
NM_004612.4(TGFBR1):c.575-9dup rs863223798
NM_004612.4(TGFBR1):c.582A>G (p.Pro194=) rs200679996
NM_004612.4(TGFBR1):c.586C>T (p.Leu196Phe) rs863223807
NM_004612.4(TGFBR1):c.599C>T (p.Thr200Ile) rs121918712
NM_004612.4(TGFBR1):c.605C>T (p.Ala202Val) rs1564161322
NM_004612.4(TGFBR1):c.640G>A (p.Gly214Ser) rs727503470
NM_004612.4(TGFBR1):c.640G>C (p.Gly214Arg) rs727503470
NM_004612.4(TGFBR1):c.673C>T (p.Arg225Trp) rs1564161544
NM_004612.4(TGFBR1):c.680AAG[1] (p.Glu228del) rs863223829
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu) rs111854391
NM_004612.4(TGFBR1):c.734A>C (p.Glu245Ala) rs1554700650
NM_004612.4(TGFBR1):c.735G>C (p.Glu245Asp) rs1588585506
NM_004612.4(TGFBR1):c.757A>G (p.Met253Val) rs886038919
NM_004612.4(TGFBR1):c.763C>T (p.Arg255Cys) rs1588585570
NM_004612.4(TGFBR1):c.797A>G (p.Asp266Gly) rs863223819
NM_004612.4(TGFBR1):c.827T>C (p.Leu276Pro) rs1827646767
NM_004612.4(TGFBR1):c.828C>G (p.Leu276=) rs886063224
NM_004612.4(TGFBR1):c.829T>A (p.Trp277Arg) rs1827647083
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.886A>G (p.Thr296Ala)
NM_004612.4(TGFBR1):c.953T>G (p.Met318Arg) rs121918710
NM_004612.4(TGFBR1):c.957G>T (p.Glu319Asp) rs2118780957
NM_004612.4(TGFBR1):c.97+15GGCG[4] rs886063221
NM_004612.4(TGFBR1):c.98-1G>A
NM_004612.4(TGFBR1):c.994A>G (p.Arg332Gly) rs2118804018

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