ClinVar Miner

List of variants studied for Loeys-Dietz syndrome by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 419
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HGVS dbSNP
NM_001024847.2(TGFBR2):c.-307C>T rs749340193
NM_001135599.3(TGFB2):c.594+38_594+43del rs10482769
NM_001135599.3(TGFB2):c.594+41_594+43del rs10482769
NM_003238.5(TGFB2):c.*1128G>A rs56271792
NM_003238.5(TGFB2):c.*1198A>G rs556560548
NM_003238.5(TGFB2):c.*1229T>C rs781757001
NM_003238.5(TGFB2):c.*1233T>A rs555872587
NM_003238.5(TGFB2):c.*1233del rs532376886
NM_003238.5(TGFB2):c.*1233dup rs532376886
NM_003238.5(TGFB2):c.*1273T>C rs143593418
NM_003238.5(TGFB2):c.*1310C>T rs1418556
NM_003238.5(TGFB2):c.*1315T>G rs577782618
NM_003238.5(TGFB2):c.*1338T>A rs574858097
NM_003238.5(TGFB2):c.*135G>A rs61762489
NM_003238.5(TGFB2):c.*1443T>A rs60086269
NM_003238.5(TGFB2):c.*1502T>C rs17500758
NM_003238.5(TGFB2):c.*1585C>G rs17047863
NM_003238.5(TGFB2):c.*1615T>C rs886045987
NM_003238.5(TGFB2):c.*1624T>A rs3737977
NM_003238.5(TGFB2):c.*1684G>C rs192396801
NM_003238.5(TGFB2):c.*2008G>A rs12408711
NM_003238.5(TGFB2):c.*201A>T rs900
NM_003238.5(TGFB2):c.*2053G>A rs530767727
NM_003238.5(TGFB2):c.*2089A>C rs886045988
NM_003238.5(TGFB2):c.*2108G>A rs184256338
NM_003238.5(TGFB2):c.*2188T>C rs17047869
NM_003238.5(TGFB2):c.*2269T>C rs193244018
NM_003238.5(TGFB2):c.*2359_*2361del rs3054943
NM_003238.5(TGFB2):c.*2360_*2361del rs3054943
NM_003238.5(TGFB2):c.*2361del rs3054943
NM_003238.5(TGFB2):c.*2431C>G rs1046017
NM_003238.5(TGFB2):c.*2564A>G rs77808075
NM_003238.5(TGFB2):c.*2617T>C rs886045992
NM_003238.5(TGFB2):c.*2839G>A rs6704255
NM_003238.5(TGFB2):c.*2950G>A rs147957308
NM_003238.5(TGFB2):c.*2980G>C rs886045993
NM_003238.5(TGFB2):c.*3141A>G rs886045994
NM_003238.5(TGFB2):c.*3196C>T rs6683598
NM_003238.5(TGFB2):c.*323_*325CAA[9] rs11118106
NM_003238.5(TGFB2):c.*39G>A rs11466412
NM_003238.5(TGFB2):c.*45A>G rs769232186
NM_003238.5(TGFB2):c.*589C>A rs886045981
NM_003238.5(TGFB2):c.*720T>C rs544540486
NM_003238.5(TGFB2):c.*747A>C rs991967
NM_003238.5(TGFB2):c.*772C>T rs886045982
NM_003238.5(TGFB2):c.*782del rs886045983
NM_003238.5(TGFB2):c.*799del rs57430619
NM_003238.5(TGFB2):c.*962A>G rs886045984
NM_003238.5(TGFB2):c.-1016C>T rs11466365
NM_003238.5(TGFB2):c.-113_-110dup rs10482719
NM_003238.5(TGFB2):c.-1153G>T rs886045959
NM_003238.5(TGFB2):c.-1271A>G rs886045958
NM_003238.5(TGFB2):c.-1278_-1273AAGAGA[3] rs886045957
NM_003238.5(TGFB2):c.-1302A>G rs10482718
NM_003238.5(TGFB2):c.-288A>T rs116531760
NM_003238.5(TGFB2):c.-338T>A rs148765724
NM_003238.5(TGFB2):c.-45del rs200186989
NM_003238.5(TGFB2):c.-542C>T rs886045973
NM_003238.5(TGFB2):c.-569T>C rs886045972
NM_003238.5(TGFB2):c.-5A>T rs200702935
NM_003238.5(TGFB2):c.-620G>A rs886045971
NM_003238.5(TGFB2):c.-644A>G rs747761067
NM_003238.5(TGFB2):c.-644_-643AC[11] rs151329324
NM_003238.5(TGFB2):c.-644_-643AC[13] rs151329324
NM_003238.5(TGFB2):c.-644_-643AC[14] rs151329324
NM_003238.5(TGFB2):c.-644_-643AC[15] rs151329324
NM_003238.5(TGFB2):c.-645_-644insCCACGC rs886045967
NM_003238.5(TGFB2):c.-646G>A rs886045968
NM_003238.5(TGFB2):c.-652_-647GCACAC[3] rs765496001
NM_003238.5(TGFB2):c.-663C>T rs886045965
NM_003238.5(TGFB2):c.-677T>C rs112369231
NM_003238.5(TGFB2):c.-679G>A rs886045964
NM_003238.5(TGFB2):c.-682C>G rs886045963
NM_003238.5(TGFB2):c.-683C>A rs886045962
NM_003238.5(TGFB2):c.-699A>C rs886045961
NM_003238.5(TGFB2):c.-714A>C rs73110310
NM_003238.5(TGFB2):c.-746G>T rs576053414
NM_003238.5(TGFB2):c.-784= rs1557153
NM_003238.5(TGFB2):c.-794T>C rs886045960
NM_003238.5(TGFB2):c.1029C>T (p.Ala343=) rs886045979
NM_003238.5(TGFB2):c.114G>A (p.Glu38=) rs149215818
NM_003238.5(TGFB2):c.1181T>C (p.Ile394Thr) rs886045980
NM_003238.5(TGFB2):c.272G>A (p.Arg91His) rs10482721
NM_003238.5(TGFB2):c.356C>T (p.Pro119Leu) rs149533093
NM_003238.5(TGFB2):c.357G>A (p.Pro119=) rs138514914
NM_003238.5(TGFB2):c.37C>A (p.His13Asn) rs763918203
NM_003238.5(TGFB2):c.510+12TTG[12] rs10482769
NM_003238.5(TGFB2):c.52G>A (p.Ala18Thr) rs886045975
NM_003238.5(TGFB2):c.54G>T (p.Ala18=) rs781126315
NM_003238.5(TGFB2):c.589G>A (p.Glu197Lys) rs764028978
NM_003238.5(TGFB2):c.619G>C (p.Val207Leu) rs10482810
NM_003238.5(TGFB2):c.670T>G (p.Leu224Val) rs886045978
NM_003238.5(TGFB2):c.798T>A (p.Thr266=) rs376354795
NM_003242.5(TGFBR2):c.-302A>G rs138010137
NM_003242.5(TGFBR2):c.-344C>A rs886058298
NM_003242.5(TGFBR2):c.-371A>C rs886058297
NM_003242.6(TGFBR2):c.*105G>A rs149112005
NM_003242.6(TGFBR2):c.*1075C>T rs544093849
NM_003242.6(TGFBR2):c.*1201C>T rs886058318
NM_003242.6(TGFBR2):c.*1211A>T rs886058319
NM_003242.6(TGFBR2):c.*1285A>T rs574876197
NM_003242.6(TGFBR2):c.*1326G>A rs886058320
NM_003242.6(TGFBR2):c.*1354C>T rs11466532
NM_003242.6(TGFBR2):c.*149A>T rs143024112
NM_003242.6(TGFBR2):c.*1507A>G rs139938413
NM_003242.6(TGFBR2):c.*1521G>A rs11466533
NM_003242.6(TGFBR2):c.*1572A>G rs878857301
NM_003242.6(TGFBR2):c.*1682A>G rs17026341
NM_003242.6(TGFBR2):c.*1809A>G rs6550008
NM_003242.6(TGFBR2):c.*1815C>T rs146296952
NM_003242.6(TGFBR2):c.*1833A>C rs1803446
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.*1880G>A rs11466534
NM_003242.6(TGFBR2):c.*1886G>T rs11466535
NM_003242.6(TGFBR2):c.*1887G>T rs886058324
NM_003242.6(TGFBR2):c.*1998G>A rs886058325
NM_003242.6(TGFBR2):c.*2065C>T rs11466536
NM_003242.6(TGFBR2):c.*2066G>A rs566913021
NM_003242.6(TGFBR2):c.*2085T>A rs11466537
NM_003242.6(TGFBR2):c.*2248dup rs34914516
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.*2340T>C rs886058328
NM_003242.6(TGFBR2):c.*2425C>A rs886058329
NM_003242.6(TGFBR2):c.*2437T>A rs886058330
NM_003242.6(TGFBR2):c.*2483T>G rs79535432
NM_003242.6(TGFBR2):c.*312A>T rs576840706
NM_003242.6(TGFBR2):c.*312_*313AT[11] rs4016180
NM_003242.6(TGFBR2):c.*328A>C rs886058309
NM_003242.6(TGFBR2):c.*330C>A rs304840
NM_003242.6(TGFBR2):c.*330_*331del rs561991238
NM_003242.6(TGFBR2):c.*33A>G rs886058306
NM_003242.6(TGFBR2):c.*352A>G rs565524213
NM_003242.6(TGFBR2):c.*443A>G rs188599299
NM_003242.6(TGFBR2):c.*598G>T rs886058311
NM_003242.6(TGFBR2):c.*599C>A rs79755385
NM_003242.6(TGFBR2):c.*704A>G rs886058312
NM_003242.6(TGFBR2):c.*713G>T rs886058313
NM_003242.6(TGFBR2):c.*742C>T rs17026328
NM_003242.6(TGFBR2):c.*747C>G rs11466531
NM_003242.6(TGFBR2):c.*793G>T rs886058314
NM_003242.6(TGFBR2):c.*799A>G rs886058315
NM_003242.6(TGFBR2):c.*835C>A rs17026332
NM_003242.6(TGFBR2):c.*848C>T rs17026336
NM_003242.6(TGFBR2):c.*858C>T rs142745018
NM_003242.6(TGFBR2):c.*859G>A rs548242538
NM_003242.6(TGFBR2):c.*86A>G rs540602629
NM_003242.6(TGFBR2):c.*988C>T rs138036906
NM_003242.6(TGFBR2):c.*989G>A rs886058316
NM_003242.6(TGFBR2):c.*997T>A rs886058317
NM_003242.6(TGFBR2):c.-117G>A rs886058302
NM_003242.6(TGFBR2):c.-128C>G rs2306856
NM_003242.6(TGFBR2):c.-18C>A rs753369354
NM_003242.6(TGFBR2):c.-193G>A rs886058301
NM_003242.6(TGFBR2):c.-228C>A rs886058300
NM_003242.6(TGFBR2):c.-249T>G rs886058299
NM_003242.6(TGFBR2):c.1042C>T (p.Arg348Cys) rs144701411
NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=) rs113194608
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=) rs2228048
NM_003242.6(TGFBR2):c.1208G>A (p.Arg403His) rs143095746
NM_003242.6(TGFBR2):c.1266A>G (p.Ala422=) rs2228047
NM_003242.6(TGFBR2):c.1470C>T (p.Asn490=) rs141113059
NM_003242.6(TGFBR2):c.1525-10C>G rs747069454
NM_003242.6(TGFBR2):c.1525-8C>T rs11466530
NM_003242.6(TGFBR2):c.1602G>A (p.Val534=) rs140818646
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr) rs112215250
NM_003242.6(TGFBR2):c.263+7A>G rs1155705
NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu) rs768385200
NM_003242.6(TGFBR2):c.455-4T>A rs11466512
NM_003242.6(TGFBR2):c.472C>T (p.Pro158Ser) rs886058303
NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile) rs56105708
NM_003242.6(TGFBR2):c.621G>A (p.Arg207=) rs886058304
NM_003242.6(TGFBR2):c.690G>A (p.Thr230=) rs201560560
NM_003242.6(TGFBR2):c.696C>T (p.Ala232=) rs768508812
NM_003242.6(TGFBR2):c.736C>T (p.Leu246=) rs886058305
NM_003242.6(TGFBR2):c.915C>T (p.Leu305=) rs146030104
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812
NM_003242.6(TGFBR2):c.984C>T (p.His328=) rs193922666
NM_003242.6(TGFBR2):c.999A>G (p.Leu333=) rs2229102
NM_004612.3(TGFBR1):c.575-9dupT rs863223798
NM_004612.3(TGFBR1):c.97+23_97+26dupGGCG rs886063221
NM_004612.4(TGFBR1):c.*1183G>A rs184564501
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.*1428G>C rs11568811
NM_004612.4(TGFBR1):c.*1431G>T rs886063232
NM_004612.4(TGFBR1):c.*1515G>A rs11568812
NM_004612.4(TGFBR1):c.*1659T>C rs200082162
NM_004612.4(TGFBR1):c.*1687A>G rs886063233
NM_004612.4(TGFBR1):c.*1704G>T rs886063234
NM_004612.4(TGFBR1):c.*1710G>A rs200197062
NM_004612.4(TGFBR1):c.*1772A>C rs201191009
NM_004612.4(TGFBR1):c.*1787T>C rs886063235
NM_004612.4(TGFBR1):c.*1804A>G rs200656974
NM_004612.4(TGFBR1):c.*1924G>T rs886063236
NM_004612.4(TGFBR1):c.*1959G>T rs886063237
NM_004612.4(TGFBR1):c.*2005T>G rs144216869
NM_004612.4(TGFBR1):c.*2081G>T rs200898127
NM_004612.4(TGFBR1):c.*2086T>G rs148063684
NM_004612.4(TGFBR1):c.*2092G>T rs199545273
NM_004612.4(TGFBR1):c.*2095T>G rs201780012
NM_004612.4(TGFBR1):c.*2100T>G rs532530728
NM_004612.4(TGFBR1):c.*2101_*2102insGT rs886063239
NM_004612.4(TGFBR1):c.*2103T>G rs7871490
NM_004612.4(TGFBR1):c.*2103_*2104insG rs36064078
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.*2106_*2108GTT[2] rs886063241
NM_004612.4(TGFBR1):c.*2179del rs373576679
NM_004612.4(TGFBR1):c.*2279T>C rs886063242
NM_004612.4(TGFBR1):c.*2410C>T rs200722893
NM_004612.4(TGFBR1):c.*2547A>G rs886063243
NM_004612.4(TGFBR1):c.*2634_*2636TCT[1] rs886063244
NM_004612.4(TGFBR1):c.*2645A>C rs17724567
NM_004612.4(TGFBR1):c.*2685T>G rs145043837
NM_004612.4(TGFBR1):c.*2703G>A rs76392135
NM_004612.4(TGFBR1):c.*2713G>T rs886063245
NM_004612.4(TGFBR1):c.*2768T>A rs886063246
NM_004612.4(TGFBR1):c.*2791G>A rs201846922
NM_004612.4(TGFBR1):c.*2799C>T rs200274678
NM_004612.4(TGFBR1):c.*2800G>A rs334349
NM_004612.4(TGFBR1):c.*2833G>A rs200520116
NM_004612.4(TGFBR1):c.*2880C>A rs886063247
NM_004612.4(TGFBR1):c.*2980G>T rs886063248
NM_004612.4(TGFBR1):c.*3056C>A rs886063249
NM_004612.4(TGFBR1):c.*309C>T rs886063226
NM_004612.4(TGFBR1):c.*311G>A rs200804500
NM_004612.4(TGFBR1):c.*3192T>C rs148797981
NM_004612.4(TGFBR1):c.*3225G>A rs3739798
NM_004612.4(TGFBR1):c.*3261T>C rs117440593
NM_004612.4(TGFBR1):c.*3262C>T rs78385793
NM_004612.4(TGFBR1):c.*3286G>C rs420549
NM_004612.4(TGFBR1):c.*3314A>G rs200374520
NM_004612.4(TGFBR1):c.*3317C>G rs201113438
NM_004612.4(TGFBR1):c.*3382T>G rs200080374
NM_004612.4(TGFBR1):c.*3430del rs78078491
NM_004612.4(TGFBR1):c.*3432G>T rs886063251
NM_004612.4(TGFBR1):c.*3482C>G rs201952588
NM_004612.4(TGFBR1):c.*3567G>A rs886063252
NM_004612.4(TGFBR1):c.*360A>G rs145692006
NM_004612.4(TGFBR1):c.*3704A>G rs563433922
NM_004612.4(TGFBR1):c.*3716T>C rs886063253
NM_004612.4(TGFBR1):c.*3790C>T rs201101442
NM_004612.4(TGFBR1):c.*3798G>A rs141277814
NM_004612.4(TGFBR1):c.*3830T>C rs186157987
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.*4147G>A rs570685518
NM_004612.4(TGFBR1):c.*4202A>G rs200206515
NM_004612.4(TGFBR1):c.*4300C>T rs41283642
NM_004612.4(TGFBR1):c.*4356A>G rs201446431
NM_004612.4(TGFBR1):c.*4467C>A rs886063257
NM_004612.4(TGFBR1):c.*4489T>C rs7850895
NM_004612.4(TGFBR1):c.*4493G>A rs41274644
NM_004612.4(TGFBR1):c.*4499G>A rs79641064
NM_004612.4(TGFBR1):c.*4565T>C rs138721378
NM_004612.4(TGFBR1):c.*4578T>G rs1590
NM_004612.4(TGFBR1):c.*4623G>C rs200806851
NM_004612.4(TGFBR1):c.*4728G>A rs187415138
NM_004612.4(TGFBR1):c.*4793A>G rs77001090
NM_004612.4(TGFBR1):c.*4804dup rs561572489
NM_004612.4(TGFBR1):c.*4809A>T rs185400896
NM_004612.4(TGFBR1):c.*512_*516del rs777186940
NM_004612.4(TGFBR1):c.*566T>C rs11568808
NM_004612.4(TGFBR1):c.*69A>G rs868
NM_004612.4(TGFBR1):c.*709C>T rs886063228
NM_004612.4(TGFBR1):c.*756C>A rs200926268
NM_004612.4(TGFBR1):c.*789G>A rs200428927
NM_004612.4(TGFBR1):c.*884A>G rs334348
NM_004612.4(TGFBR1):c.-13T>C rs886063220
NM_004612.4(TGFBR1):c.-43C>A rs886063219
NM_004612.4(TGFBR1):c.1032T>C (p.Asn344=) rs192662552
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) rs7861780
NM_004612.4(TGFBR1):c.1443T>A (p.Ala481=) rs886063225
NM_004612.4(TGFBR1):c.415A>G (p.Ile139Val) rs148176750
NM_004612.4(TGFBR1):c.457G>A (p.Val153Ile) rs56014374
NM_004612.4(TGFBR1):c.479A>G (p.Asn160Ser) rs767785290
NM_004612.4(TGFBR1):c.490C>T (p.Pro164Ser) rs886063222
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=) rs190878719
NM_004612.4(TGFBR1):c.52_54GCG[6] (p.Ala24_Ala26del) rs11466445
NM_004612.4(TGFBR1):c.666A>G (p.Gly222=) rs886063223
NM_004612.4(TGFBR1):c.828C>G (p.Leu276=) rs886063224
NM_005902.3(SMAD3):c.*4658T>C rs548318946
NM_005902.4(SMAD3):c.*1105G>A rs8031440
NM_005902.4(SMAD3):c.*1165A>G rs567052377
NM_005902.4(SMAD3):c.*1181C>T rs72661160
NM_005902.4(SMAD3):c.*1217A>G rs150600147
NM_005902.4(SMAD3):c.*1245G>A rs8031627
NM_005902.4(SMAD3):c.*1255A>G rs569581429
NM_005902.4(SMAD3):c.*1315C>T rs886051391
NM_005902.4(SMAD3):c.*1325T>C rs139620908
NM_005902.4(SMAD3):c.*1326A>G rs886051392
NM_005902.4(SMAD3):c.*1355C>G rs886051393
NM_005902.4(SMAD3):c.*1423C>T rs2278670
NM_005902.4(SMAD3):c.*1443C>A rs886051394
NM_005902.4(SMAD3):c.*1493C>A rs886051395
NM_005902.4(SMAD3):c.*1515C>A rs886051396
NM_005902.4(SMAD3):c.*1548G>T rs886051397
NM_005902.4(SMAD3):c.*1597G>C rs886051398
NM_005902.4(SMAD3):c.*1614C>A rs886051399
NM_005902.4(SMAD3):c.*1641T>G rs886051400
NM_005902.4(SMAD3):c.*1644T>G rs886051401
NM_005902.4(SMAD3):c.*1695G>T rs886051402
NM_005902.4(SMAD3):c.*1749G>T rs886051403
NM_005902.4(SMAD3):c.*1767G>C rs533635017
NM_005902.4(SMAD3):c.*1777_*1778insCCT rs369386357
NM_005902.4(SMAD3):c.*1784G>T rs886051404
NM_005902.4(SMAD3):c.*1790G>A rs530788405
NM_005902.4(SMAD3):c.*1800_*1803del rs141408841
NM_005902.4(SMAD3):c.*1805T>C rs191114875
NM_005902.4(SMAD3):c.*1819C>T rs886051406
NM_005902.4(SMAD3):c.*1820G>T rs886051407
NM_005902.4(SMAD3):c.*1831G>T rs886051408
NM_005902.4(SMAD3):c.*1853C>A rs886051409
NM_005902.4(SMAD3):c.*1880C>T rs144205938
NM_005902.4(SMAD3):c.*195G>T rs886051381
NM_005902.4(SMAD3):c.*2013T>C rs183913368
NM_005902.4(SMAD3):c.*2026T>C rs886051410
NM_005902.4(SMAD3):c.*2028T>C rs549152312
NM_005902.4(SMAD3):c.*2038G>T rs886051411
NM_005902.4(SMAD3):c.*2046T>C rs761162475
NM_005902.4(SMAD3):c.*2227G>A rs11638476
NM_005902.4(SMAD3):c.*2229A>G rs188412401
NM_005902.4(SMAD3):c.*2242A>G rs117707762
NM_005902.4(SMAD3):c.*2245C>A rs886051412
NM_005902.4(SMAD3):c.*2251C>A rs886051413
NM_005902.4(SMAD3):c.*2282C>T rs12595334
NM_005902.4(SMAD3):c.*2285G>A rs62014609
NM_005902.4(SMAD3):c.*2291C>A rs886051414
NM_005902.4(SMAD3):c.*2303G>C rs886051415
NM_005902.4(SMAD3):c.*2403C>T rs755985886
NM_005902.4(SMAD3):c.*2444A>G rs145102966
NM_005902.4(SMAD3):c.*2453C>A rs886051416
NM_005902.4(SMAD3):c.*2476A>C rs886051417
NM_005902.4(SMAD3):c.*250C>A rs754034578
NM_005902.4(SMAD3):c.*2547C>T rs72661161
NM_005902.4(SMAD3):c.*2573G>A rs886051418
NM_005902.4(SMAD3):c.*2573G>T rs886051418
NM_005902.4(SMAD3):c.*2580C>A rs886051419
NM_005902.4(SMAD3):c.*2596G>T rs886051420
NM_005902.4(SMAD3):c.*2793C>T rs3743342
NM_005902.4(SMAD3):c.*2891C>A rs886051421
NM_005902.4(SMAD3):c.*291G>A rs146287966
NM_005902.4(SMAD3):c.*292G>T rs886051382
NM_005902.4(SMAD3):c.*2963A>C rs886051422
NM_005902.4(SMAD3):c.*2995G>A rs140694679
NM_005902.4(SMAD3):c.*301C>T rs72661159
NM_005902.4(SMAD3):c.*3037C>G rs145645018
NM_005902.4(SMAD3):c.*304C>T rs565932125
NM_005902.4(SMAD3):c.*3120G>T rs886051423
NM_005902.4(SMAD3):c.*3129C>T rs886051424
NM_005902.4(SMAD3):c.*3147G>T rs886051425
NM_005902.4(SMAD3):c.*3148T>C rs886051426
NM_005902.4(SMAD3):c.*3174del rs886051427
NM_005902.4(SMAD3):c.*3174dup rs886051427
NM_005902.4(SMAD3):c.*318G>A rs79368607
NM_005902.4(SMAD3):c.*3512A>G rs886051429
NM_005902.4(SMAD3):c.*3661G>A rs886051430
NM_005902.4(SMAD3):c.*3719C>T rs886051431
NM_005902.4(SMAD3):c.*3738C>T rs886051432
NM_005902.4(SMAD3):c.*402C>T rs8025774
NM_005902.4(SMAD3):c.*4195G>A rs886051433
NM_005902.4(SMAD3):c.*419G>T rs78329172
NM_005902.4(SMAD3):c.*4445C>T rs886051434
NM_005902.4(SMAD3):c.*4556C>A rs886051435
NM_005902.4(SMAD3):c.*4556C>T rs886051435
NM_005902.4(SMAD3):c.*495C>A rs886051383
NM_005902.4(SMAD3):c.*51G>C rs368655036
NM_005902.4(SMAD3):c.*552G>C rs769408016
NM_005902.4(SMAD3):c.*552G>T rs769408016
NM_005902.4(SMAD3):c.*573G>T rs886051384
NM_005902.4(SMAD3):c.*579del rs550707472
NM_005902.4(SMAD3):c.*609A>G rs564556206
NM_005902.4(SMAD3):c.*626C>T rs886051385
NM_005902.4(SMAD3):c.*632C>A rs886051386
NM_005902.4(SMAD3):c.*654A>G rs571689385
NM_005902.4(SMAD3):c.*656C>A rs886051387
NM_005902.4(SMAD3):c.*665T>A rs186841203
NM_005902.4(SMAD3):c.*678C>A rs886051388
NM_005902.4(SMAD3):c.*789A>G rs191679355
NM_005902.4(SMAD3):c.*798G>A rs138327222
NM_005902.4(SMAD3):c.*843G>A rs55970514
NM_005902.4(SMAD3):c.*925G>A rs886051389
NM_005902.4(SMAD3):c.*981C>A rs886051390
NM_005902.4(SMAD3):c.-100C>T rs886051379
NM_005902.4(SMAD3):c.-115C>T rs556470157
NM_005902.4(SMAD3):c.-15G>A rs1061427
NM_005902.4(SMAD3):c.-164A>C rs886051378
NM_005902.4(SMAD3):c.-168C>A rs886051377
NM_005902.4(SMAD3):c.-217C>T rs886051376
NM_005902.4(SMAD3):c.-23C>T rs36221703
NM_005902.4(SMAD3):c.-240G>T rs886051375
NM_005902.4(SMAD3):c.-244G>A rs886051374
NM_005902.4(SMAD3):c.-265T>G rs886051373
NM_005902.4(SMAD3):c.-280C>A rs886051372
NM_005902.4(SMAD3):c.-28C>T rs144374592
NM_005902.4(SMAD3):c.1010-12T>C rs773629535
NM_005902.4(SMAD3):c.1102C>A (p.Arg368=) rs757106110
NM_005902.4(SMAD3):c.1125C>T (p.Ser375=) rs144245324
NM_005902.4(SMAD3):c.207-10G>A rs201912204
NM_005902.4(SMAD3):c.309A>G (p.Leu103=) rs1065080
NM_005902.4(SMAD3):c.341A>G (p.Asn114Ser) rs369221296
NM_005902.4(SMAD3):c.457C>T (p.Leu153=) rs145380987
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val) rs35874463
NM_005902.4(SMAD3):c.607+9T>A rs886051380
NM_005902.4(SMAD3):c.66G>A (p.Glu22=) rs187952791
NM_005902.4(SMAD3):c.870C>T (p.Ile290=) rs117185005
NM_005902.4(SMAD3):c.885G>A (p.Arg295=) rs139616052
NM_005902.4(SMAD3):c.922C>T (p.Leu308Phe) rs764656928
NM_005902.4(SMAD3):c.984G>A (p.Pro328=) rs150994304

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