ClinVar Miner

List of variants in gene TGFBR1 reported as uncertain significance for Loeys-Dietz syndrome 1

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Gene type:
ClinVar version:
Total variants: 118
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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.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.1065A>C (p.Ala355=) rs758280185 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.*3482C>G rs201952588 0.00002
NM_004612.4(TGFBR1):c.*4147G>A rs570685518 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.479A>G (p.Asn160Ser) rs767785290 0.00001
NM_004612.4(TGFBR1):c.666A>G (p.Gly222=) rs886063223 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.*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.1442C>T (p.Ala481Val)
NM_004612.4(TGFBR1):c.1443T>A (p.Ala481=) rs886063225
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.490C>T (p.Pro164Ser) rs886063222
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.582A>G (p.Pro194=) rs200679996
NM_004612.4(TGFBR1):c.734A>C (p.Glu245Ala) rs1554700650
NM_004612.4(TGFBR1):c.763C>T (p.Arg255Cys) rs1588585570
NM_004612.4(TGFBR1):c.828C>G (p.Leu276=) rs886063224
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.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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