ClinVar Miner

List of variants reported as uncertain significance for Loeys-Dietz syndrome 2

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 470
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HGVS dbSNP gnomAD frequency
NM_003242.6(TGFBR2):c.*2066G>A rs566913021 0.00116
NM_003242.6(TGFBR2):c.*443A>G rs188599299 0.00065
NM_001032283.3(TMPO):c.565+2368G>A rs138295270 0.00058
NM_001032283.3(TMPO):c.565+1848G>A rs34301677 0.00037
NM_003242.6(TGFBR2):c.-193G>A rs886058301 0.00034
NM_003242.6(TGFBR2):c.*86A>G rs540602629 0.00021
NM_001032283.3(TMPO):c.565+1186T>A rs146364154 0.00017
NM_003242.6(TGFBR2):c.*407A>G rs917786105 0.00015
NM_001032283.3(TMPO):c.565+2182T>C rs571417296 0.00013
NM_001032283.3(TMPO):c.565+1641A>G rs143232629 0.00011
NM_003242.6(TGFBR2):c.-371A>C rs886058297 0.00010
NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu) rs768385200 0.00010
NM_001032283.3(TMPO):c.164C>T (p.Ala55Val) rs756232510 0.00009
NM_001032283.3(TMPO):c.565+1531C>T rs199943517 0.00009
NM_001032283.3(TMPO):c.565+1617A>G rs771185259 0.00008
NM_003242.6(TGFBR2):c.125A>G (p.Asn42Ser) rs1305653433 0.00008
NM_001032283.3(TMPO):c.565+2102C>G rs764177808 0.00007
NM_003242.6(TGFBR2):c.1013C>T (p.Thr338Met) rs752866783 0.00007
NM_001032283.3(TMPO):c.565+1213G>A rs368211058 0.00006
NM_001032283.3(TMPO):c.565+1317C>T rs376074187 0.00006
NM_001032283.3(TMPO):c.565+1328G>T rs369208265 0.00006
NM_001032283.3(TMPO):c.565+2196A>G rs369840957 0.00006
NM_001032283.3(TMPO):c.565+2361G>T rs746160070 0.00006
NM_003242.6(TGFBR2):c.*1637G>A rs1032978663 0.00006
NM_003242.6(TGFBR2):c.1066C>G (p.Arg356Gly) rs199660234 0.00006
NM_003242.6(TGFBR2):c.937C>T (p.Arg313Trp) rs55751315 0.00006
NM_001032283.3(TMPO):c.565+1107C>T rs750751621 0.00005
NM_001032283.3(TMPO):c.565+1824C>G rs373861992 0.00005
NM_003242.6(TGFBR2):c.340G>C (p.Glu114Gln) rs771551560 0.00005
NM_003242.6(TGFBR2):c.689C>T (p.Thr230Met) rs150116445 0.00005
NM_003242.6(TGFBR2):c.91T>G (p.Ser31Ala) rs761400349 0.00005
NM_001032283.3(TMPO):c.128A>G (p.Gln43Arg) rs371427406 0.00004
NM_001032283.3(TMPO):c.565+1310G>C rs779961791 0.00004
NM_001032283.3(TMPO):c.565+1414G>A rs1381728541 0.00004
NM_001032283.3(TMPO):c.565+1675A>G rs370366685 0.00004
NM_001032283.3(TMPO):c.565+2188C>T rs763238672 0.00004
NM_003242.6(TGFBR2):c.*1572A>G rs878857301 0.00004
NM_003242.6(TGFBR2):c.*2340T>C rs886058328 0.00004
NM_003242.6(TGFBR2):c.*352A>G rs565524213 0.00004
NM_003242.6(TGFBR2):c.*988C>T rs138036906 0.00004
NM_003242.6(TGFBR2):c.116C>A (p.Thr39Asn) rs146277116 0.00004
NM_003242.6(TGFBR2):c.1316T>C (p.Val439Ala) rs1050833 0.00004
NM_003242.6(TGFBR2):c.394A>G (p.Thr132Ala) rs146497045 0.00004
NM_003242.6(TGFBR2):c.617C>T (p.Thr206Met) rs150022335 0.00004
NM_003242.6(TGFBR2):c.620G>A (p.Arg207Gln) rs371209879 0.00004
NM_003242.6(TGFBR2):c.69G>T (p.Thr23=) rs878854612 0.00004
NM_003242.6(TGFBR2):c.893A>G (p.Asn298Ser) rs751587466 0.00004
NM_003242.6(TGFBR2):c.938G>A (p.Arg313Gln) rs200361387 0.00004
NM_003242.6(TGFBR2):c.95-3C>A rs375330013 0.00004
NM_001032283.3(TMPO):c.331G>C (p.Asp111His) rs201838047 0.00003
NM_001032283.3(TMPO):c.529A>G (p.Ser177Gly) rs765922156 0.00003
NM_001032283.3(TMPO):c.565+1917A>G rs727505217 0.00003
NM_001032283.3(TMPO):c.565+2104A>G rs766567371 0.00003
NM_001032283.3(TMPO):c.565+2247C>T rs369379490 0.00003
NM_001032283.3(TMPO):c.565+2253C>T rs201929673 0.00003
NM_001032283.3(TMPO):c.565+2268A>T rs759832690 0.00003
NM_001032283.3(TMPO):c.565+2301A>G rs765153747 0.00003
NM_001032283.3(TMPO):c.565+2467T>A rs767216575 0.00003
NM_003242.6(TGFBR2):c.*2425C>A rs886058329 0.00003
NM_003242.6(TGFBR2):c.*989G>A rs886058316 0.00003
NM_003242.6(TGFBR2):c.452A>T (p.Glu151Val) rs757051948 0.00003
NM_003242.6(TGFBR2):c.569G>A (p.Arg190His) rs780542125 0.00003
NM_003242.6(TGFBR2):c.64A>T (p.Ser22Cys) rs767407566 0.00003
NM_003242.6(TGFBR2):c.671G>A (p.Arg224His) rs112465572 0.00003
NM_003242.6(TGFBR2):c.81C>T (p.His27=) rs1057520957 0.00003
NM_001032283.3(TMPO):c.248C>T (p.Ala83Val) rs730880228 0.00002
NM_001032283.3(TMPO):c.318T>A (p.Asp106Glu) rs772509210 0.00002
NM_001032283.3(TMPO):c.370C>T (p.Leu124Phe) rs375619307 0.00002
NM_001032283.3(TMPO):c.497C>A (p.Ser166Tyr) rs147012167 0.00002
NM_001032283.3(TMPO):c.565+1078A>G rs774074641 0.00002
NM_001032283.3(TMPO):c.565+1246T>C rs144465114 0.00002
NM_001032283.3(TMPO):c.565+1449A>G rs754951098 0.00002
NM_001032283.3(TMPO):c.565+1597T>C rs1227785613 0.00002
NM_001032283.3(TMPO):c.565+1829dup rs1877366767 0.00002
NM_001032283.3(TMPO):c.565+2095A>C rs557983360 0.00002
NM_001032283.3(TMPO):c.565+2137A>G rs886049913 0.00002
NM_001032283.3(TMPO):c.565+2248G>A rs150445385 0.00002
NM_001032283.3(TMPO):c.70A>C (p.Asn24His) rs727505279 0.00002
NM_001032283.3(TMPO):c.85G>A (p.Ala29Thr) rs1174108011 0.00002
NM_003242.6(TGFBR2):c.*579T>C rs1259191128 0.00002
NM_003242.6(TGFBR2):c.1043G>A (p.Arg348His) rs369450067 0.00002
NM_003242.6(TGFBR2):c.1063G>A (p.Ala355Thr) rs104893813 0.00002
NM_003242.6(TGFBR2):c.1459A>C (p.Met487Leu) rs767120937 0.00002
NM_003242.6(TGFBR2):c.277G>A (p.Glu93Lys) rs766473954 0.00002
NM_001032283.3(TMPO):c.133C>T (p.Leu45Phe) rs1490105931 0.00001
NM_001032283.3(TMPO):c.154C>T (p.Pro52Ser) rs767796798 0.00001
NM_001032283.3(TMPO):c.176G>C (p.Ser59Thr) rs987636941 0.00001
NM_001032283.3(TMPO):c.263G>A (p.Arg88Gln) rs774853700 0.00001
NM_001032283.3(TMPO):c.289A>G (p.Lys97Glu) rs778356103 0.00001
NM_001032283.3(TMPO):c.296C>G (p.Thr99Ser) rs529351559 0.00001
NM_001032283.3(TMPO):c.382G>A (p.Gly128Arg) rs200943582 0.00001
NM_001032283.3(TMPO):c.392C>G (p.Pro131Arg) rs1001615865 0.00001
NM_001032283.3(TMPO):c.476C>T (p.Ser159Phe) rs183244086 0.00001
NM_001032283.3(TMPO):c.517A>G (p.Arg173Gly) rs1430201856 0.00001
NM_001032283.3(TMPO):c.565+1053A>G rs769778970 0.00001
NM_001032283.3(TMPO):c.565+1084T>A rs767247716 0.00001
NM_001032283.3(TMPO):c.565+1104A>C rs764732034 0.00001
NM_001032283.3(TMPO):c.565+1128G>A rs770791830 0.00001
NM_001032283.3(TMPO):c.565+1137G>A rs375903462 0.00001
NM_001032283.3(TMPO):c.565+1155A>G rs1235766643 0.00001
NM_001032283.3(TMPO):c.565+1165G>C rs191275106 0.00001
NM_001032283.3(TMPO):c.565+1183C>T rs762263378 0.00001
NM_001032283.3(TMPO):c.565+1275A>G rs763320036 0.00001
NM_001032283.3(TMPO):c.565+1282T>C rs886049912 0.00001
NM_001032283.3(TMPO):c.565+1297C>T rs560525921 0.00001
NM_001032283.3(TMPO):c.565+1305T>G rs201730568 0.00001
NM_001032283.3(TMPO):c.565+1318A>G rs754640974 0.00001
NM_001032283.3(TMPO):c.565+1327T>C rs1325196944 0.00001
NM_001032283.3(TMPO):c.565+1384A>G rs766401550 0.00001
NM_001032283.3(TMPO):c.565+1390A>G rs780719278 0.00001
NM_001032283.3(TMPO):c.565+1471C>T rs779303657 0.00001
NM_001032283.3(TMPO):c.565+1485A>G rs730880229 0.00001
NM_001032283.3(TMPO):c.565+1567C>T rs202166461 0.00001
NM_001032283.3(TMPO):c.565+1576T>C rs747232440 0.00001
NM_001032283.3(TMPO):c.565+1623C>G rs902009254 0.00001
NM_001032283.3(TMPO):c.565+1626C>G rs1555203864 0.00001
NM_001032283.3(TMPO):c.565+1648A>G rs1057524856 0.00001
NM_001032283.3(TMPO):c.565+1654T>C rs753527126 0.00001
NM_001032283.3(TMPO):c.565+1662T>G rs200367787 0.00001
NM_001032283.3(TMPO):c.565+1805A>C rs767027388 0.00001
NM_001032283.3(TMPO):c.565+1809G>A rs1450805694 0.00001
NM_001032283.3(TMPO):c.565+1911A>G rs754188509 0.00001
NM_001032283.3(TMPO):c.565+1949C>G rs750502531 0.00001
NM_001032283.3(TMPO):c.565+1968G>A rs1051007448 0.00001
NM_001032283.3(TMPO):c.565+2079C>T rs144269053 0.00001
NM_001032283.3(TMPO):c.565+2092C>A rs563175204 0.00001
NM_001032283.3(TMPO):c.565+2236C>G rs746645331 0.00001
NM_001032283.3(TMPO):c.565+2260C>T rs367769644 0.00001
NM_001032283.3(TMPO):c.565+2331A>G rs1319585944 0.00001
NM_001032283.3(TMPO):c.565+2347T>C rs1450811229 0.00001
NM_001032283.3(TMPO):c.565+2367C>T rs772424658 0.00001
NM_001032283.3(TMPO):c.565+2409T>G rs759247844 0.00001
NM_001032283.3(TMPO):c.565+2431C>G rs1435432542 0.00001
NM_001032283.3(TMPO):c.565+2488G>A rs779219922 0.00001
NM_001032283.3(TMPO):c.565+999C>T rs138259721 0.00001
NM_003242.6(TGFBR2):c.*1201C>T rs886058318 0.00001
NM_003242.6(TGFBR2):c.*1465T>C rs1171877784 0.00001
NM_003242.6(TGFBR2):c.*1887G>A rs886058324 0.00001
NM_003242.6(TGFBR2):c.*820G>A rs1259248325 0.00001
NM_003242.6(TGFBR2):c.1153A>G (p.Ile385Val) rs137908708 0.00001
NM_003242.6(TGFBR2):c.1207C>T (p.Arg403Cys) rs886038960 0.00001
NM_003242.6(TGFBR2):c.1222C>A (p.Leu408Met) rs770352403 0.00001
NM_003242.6(TGFBR2):c.1397A>T (p.Glu466Val) rs1321865816 0.00001
NM_003242.6(TGFBR2):c.1471G>A (p.Val491Met) rs754176932 0.00001
NM_003242.6(TGFBR2):c.1517A>G (p.Asn506Ser) rs780087626 0.00001
NM_003242.6(TGFBR2):c.1525-10C>G rs747069454 0.00001
NM_003242.6(TGFBR2):c.1546A>T (p.Thr516Ser) rs370708687 0.00001
NM_003242.6(TGFBR2):c.1643C>T (p.Ser548Leu) rs755070814 0.00001
NM_003242.6(TGFBR2):c.1645G>T (p.Gly549Trp) rs748418894 0.00001
NM_003242.6(TGFBR2):c.1658C>T (p.Ser553Leu) rs569635708 0.00001
NM_003242.6(TGFBR2):c.1681G>A (p.Gly561Ser) rs768103695 0.00001
NM_003242.6(TGFBR2):c.403A>G (p.Met135Val) rs377455599 0.00001
NM_003242.6(TGFBR2):c.412T>G (p.Cys138Gly) rs863223838 0.00001
NM_003242.6(TGFBR2):c.43G>T (p.Val15Phe) rs1182907194 0.00001
NM_003242.6(TGFBR2):c.54G>C (p.Thr18=) rs139456857 0.00001
NM_003242.6(TGFBR2):c.556T>A (p.Phe186Ile) rs368346624 0.00001
NM_003242.6(TGFBR2):c.578G>A (p.Arg193Gln) rs748437880 0.00001
NM_003242.6(TGFBR2):c.619C>T (p.Arg207Trp) rs775640617 0.00001
NM_003242.6(TGFBR2):c.640G>A (p.Glu214Lys) rs764821003 0.00001
NM_003242.6(TGFBR2):c.670C>T (p.Arg224Cys) rs748195637 0.00001
NM_003242.6(TGFBR2):c.740A>T (p.Asp247Val) rs761231369 0.00001
NM_003242.6(TGFBR2):c.76C>T (p.Pro26Ser) rs764160271 0.00001
NM_003242.6(TGFBR2):c.776A>G (p.Tyr259Cys) rs767919854 0.00001
NM_003242.6(TGFBR2):c.803C>T (p.Ser268Leu) rs139078984 0.00001
NM_003242.6(TGFBR2):c.842A>G (p.Tyr281Cys) rs1210616464 0.00001
NM_003242.6(TGFBR2):c.95-10C>G rs952006496 0.00001
NM_003242.6(TGFBR2):c.95-3679C>A rs1312697004 0.00001
NM_003242.6(TGFBR2):c.953G>C (p.Gly318Ala) rs754785934 0.00001
GRCh37/hg19 3p24.1(chr3:30729876-30730003)
NC_000012.11:g.(?_98909636)_(98909934_?)del
NC_000012.11:g.(?_98909646)_(98909944_?)dup
NC_000012.11:g.(?_98909646)_(98928120_?)dup
NM_001032283.3(TMPO):c.117G>C (p.Gln39His) rs1285673694
NM_001032283.3(TMPO):c.137C>G (p.Thr46Arg) rs776416936
NM_001032283.3(TMPO):c.152C>T (p.Pro51Leu)
NM_001032283.3(TMPO):c.170C>A (p.Thr57Asn)
NM_001032283.3(TMPO):c.170C>G (p.Thr57Ser)
NM_001032283.3(TMPO):c.170C>T (p.Thr57Ile)
NM_001032283.3(TMPO):c.174C>G (p.Asn58Lys)
NM_001032283.3(TMPO):c.185C>T (p.Pro62Leu) rs746863579
NM_001032283.3(TMPO):c.210G>T (p.Glu70Asp)
NM_001032283.3(TMPO):c.221C>T (p.Thr74Ile)
NM_001032283.3(TMPO):c.229C>T (p.Leu77Phe)
NM_001032283.3(TMPO):c.236C>T (p.Ser79Phe)
NM_001032283.3(TMPO):c.251C>T (p.Ala84Val)
NM_001032283.3(TMPO):c.256C>G (p.Arg86Gly) rs1875778307
NM_001032283.3(TMPO):c.272T>C (p.Val91Ala)
NM_001032283.3(TMPO):c.274G>A (p.Gly92Ser)
NM_001032283.3(TMPO):c.278G>A (p.Arg93Lys) rs1555201635
NM_001032283.3(TMPO):c.279+4A>C rs1875782829
NM_001032283.3(TMPO):c.279G>A (p.Arg93=) rs759987514
NM_001032283.3(TMPO):c.280-11T>G
NM_001032283.3(TMPO):c.284C>T (p.Ala95Val)
NM_001032283.3(TMPO):c.287C>T (p.Thr96Ile)
NM_001032283.3(TMPO):c.308G>C (p.Arg103Thr)
NM_001032283.3(TMPO):c.324T>A (p.Asp108Glu)
NM_001032283.3(TMPO):c.365A>T (p.Asp122Val) rs904567500
NM_001032283.3(TMPO):c.373G>A (p.Val125Met) rs1325674217
NM_001032283.3(TMPO):c.380A>G (p.Tyr127Cys) rs1259294108
NM_001032283.3(TMPO):c.383G>A (p.Gly128Glu) rs886049910
NM_001032283.3(TMPO):c.386T>G (p.Val129Gly)
NM_001032283.3(TMPO):c.391C>T (p.Pro131Ser)
NM_001032283.3(TMPO):c.400A>C (p.Ile134Leu)
NM_001032283.3(TMPO):c.400A>T (p.Ile134Phe) rs745442874
NM_001032283.3(TMPO):c.443A>G (p.Lys148Arg) rs2121195483
NM_001032283.3(TMPO):c.460A>C (p.Thr154Pro)
NM_001032283.3(TMPO):c.472TCT[1] (p.Ser159del)
NM_001032283.3(TMPO):c.478A>C (p.Thr160Pro) rs770948908
NM_001032283.3(TMPO):c.478_480del (p.Thr160del)
NM_001032283.3(TMPO):c.479C>T (p.Thr160Ile)
NM_001032283.3(TMPO):c.482C>A (p.Pro161His)
NM_001032283.3(TMPO):c.482C>T (p.Pro161Leu) rs1877210566
NM_001032283.3(TMPO):c.485T>A (p.Leu162Gln)
NM_001032283.3(TMPO):c.485T>G (p.Leu162Arg) rs2121195897
NM_001032283.3(TMPO):c.493A>G (p.Ile165Val)
NM_001032283.3(TMPO):c.503CAG[1] (p.Ala169del)
NM_001032283.3(TMPO):c.506C>G (p.Ala169Gly)
NM_001032283.3(TMPO):c.52A>G (p.Ser18Gly) rs2121093002
NM_001032283.3(TMPO):c.565+1005A>G
NM_001032283.3(TMPO):c.565+1017A>G
NM_001032283.3(TMPO):c.565+1018C>G
NM_001032283.3(TMPO):c.565+1026A>G rs1447801243
NM_001032283.3(TMPO):c.565+1033C>T rs747066370
NM_001032283.3(TMPO):c.565+1048G>A rs1877293542
NM_001032283.3(TMPO):c.565+1048G>C
NM_001032283.3(TMPO):c.565+1062_565+1063delinsTT
NM_001032283.3(TMPO):c.565+1069G>A
NM_001032283.3(TMPO):c.565+1108G>A
NM_001032283.3(TMPO):c.565+1114C>T rs754944353
NM_001032283.3(TMPO):c.565+1120G>C
NM_001032283.3(TMPO):c.565+1128G>T
NM_001032283.3(TMPO):c.565+1161A>G rs2121202826
NM_001032283.3(TMPO):c.565+1168A>T rs370585407
NM_001032283.3(TMPO):c.565+1179G>T
NM_001032283.3(TMPO):c.565+1257T>C rs1877309895
NM_001032283.3(TMPO):c.565+1260A>C rs779869644
NM_001032283.3(TMPO):c.565+1272del
NM_001032283.3(TMPO):c.565+1273A>G rs146158243
NM_001032283.3(TMPO):c.565+1279G>A
NM_001032283.3(TMPO):c.565+1302T>C
NM_001032283.3(TMPO):c.565+1312C>G
NM_001032283.3(TMPO):c.565+1320A>C rs747613142
NM_001032283.3(TMPO):c.565+1361T>G rs185083543
NM_001032283.3(TMPO):c.565+1362_565+1363insTCA rs755623404
NM_001032283.3(TMPO):c.565+1372C>T
NM_001032283.3(TMPO):c.565+1374A>C rs760685984
NM_001032283.3(TMPO):c.565+1378G>A
NM_001032283.3(TMPO):c.565+1420A>G
NM_001032283.3(TMPO):c.565+1439A>C rs1877327751
NM_001032283.3(TMPO):c.565+1467C>G rs200124801
NM_001032283.3(TMPO):c.565+1467C>T rs200124801
NM_001032283.3(TMPO):c.565+1474C>T
NM_001032283.3(TMPO):c.565+1474CT[2] rs1359210478
NM_001032283.3(TMPO):c.565+1508_565+1509del
NM_001032283.3(TMPO):c.565+1536_565+1543del
NM_001032283.3(TMPO):c.565+1548A>G rs779658294
NM_001032283.3(TMPO):c.565+1575G>A rs1060502980
NM_001032283.3(TMPO):c.565+1584G>A rs147002330
NM_001032283.3(TMPO):c.565+1584G>C rs147002330
NM_001032283.3(TMPO):c.565+1584G>T
NM_001032283.3(TMPO):c.565+1587G>A
NM_001032283.3(TMPO):c.565+1590G>A
NM_001032283.3(TMPO):c.565+1595T>G
NM_001032283.3(TMPO):c.565+1609C>G
NM_001032283.3(TMPO):c.565+1611A>C
NM_001032283.3(TMPO):c.565+1633T>C
NM_001032283.3(TMPO):c.565+1643A>G
NM_001032283.3(TMPO):c.565+1692C>A rs879040481
NM_001032283.3(TMPO):c.565+1692C>T rs879040481
NM_001032283.3(TMPO):c.565+1708C>T
NM_001032283.3(TMPO):c.565+1724G>C
NM_001032283.3(TMPO):c.565+1725T>A
NM_001032283.3(TMPO):c.565+1774C>G rs762576951
NM_001032283.3(TMPO):c.565+1782G>A rs763388598
NM_001032283.3(TMPO):c.565+1790G>A
NM_001032283.3(TMPO):c.565+1795C>A rs1877361719
NM_001032283.3(TMPO):c.565+1807C>G
NM_001032283.3(TMPO):c.565+1813TC[2] rs1877364478
NM_001032283.3(TMPO):c.565+1872A>G rs1060502979
NM_001032283.3(TMPO):c.565+1873T>C rs1238424266
NM_001032283.3(TMPO):c.565+1878G>A rs1877372287
NM_001032283.3(TMPO):c.565+1905G>T rs2121207714
NM_001032283.3(TMPO):c.565+1928del rs1442448525
NM_001032283.3(TMPO):c.565+1932G>A
NM_001032283.3(TMPO):c.565+1935T>C
NM_001032283.3(TMPO):c.565+1983del
NM_001032283.3(TMPO):c.565+1995G>A
NM_001032283.3(TMPO):c.565+2002C>T rs2121208214
NM_001032283.3(TMPO):c.565+2014C>G rs2121208283
NM_001032283.3(TMPO):c.565+2019C>A rs764610443
NM_001032283.3(TMPO):c.565+2022A>G
NM_001032283.3(TMPO):c.565+2026T>C rs1555203926
NM_001032283.3(TMPO):c.565+2029A>G
NM_001032283.3(TMPO):c.565+2044G>T
NM_001032283.3(TMPO):c.565+2058G>T
NM_001032283.3(TMPO):c.565+2067C>G rs745484180
NM_001032283.3(TMPO):c.565+2085G>A
NM_001032283.3(TMPO):c.565+2101G>A rs774064196
NM_001032283.3(TMPO):c.565+2101G>T
NM_001032283.3(TMPO):c.565+2102C>A rs764177808
NM_001032283.3(TMPO):c.565+2128G>A
NM_001032283.3(TMPO):c.565+2169A>G
NM_001032283.3(TMPO):c.565+2170C>G
NM_001032283.3(TMPO):c.565+2170C>T
NM_001032283.3(TMPO):c.565+2172C>T rs1565812072
NM_001032283.3(TMPO):c.565+2173A>T
NM_001032283.3(TMPO):c.565+2175A>G rs1877399544
NM_001032283.3(TMPO):c.565+2175_565+2176del
NM_001032283.3(TMPO):c.565+2179C>T
NM_001032283.3(TMPO):c.565+2197T>C rs1877401842
NM_001032283.3(TMPO):c.565+2220G>A
NM_001032283.3(TMPO):c.565+2229C>G
NM_001032283.3(TMPO):c.565+2247C>G rs369379490
NM_001032283.3(TMPO):c.565+2251C>T
NM_001032283.3(TMPO):c.565+2280A>G rs1877412049
NM_001032283.3(TMPO):c.565+2281C>T rs1877412433
NM_001032283.3(TMPO):c.565+2284_565+2285del rs767209319
NM_001032283.3(TMPO):c.565+2292G>A
NM_001032283.3(TMPO):c.565+2299A>G rs766232053
NM_001032283.3(TMPO):c.565+2340C>G rs1877418406
NM_001032283.3(TMPO):c.565+2340C>T
NM_001032283.3(TMPO):c.565+2346A>G rs1565812255
NM_001032283.3(TMPO):c.565+2353A>G rs1335078305
NM_001032283.3(TMPO):c.565+2362T>C
NM_001032283.3(TMPO):c.565+2367C>G
NM_001032283.3(TMPO):c.565+2369_565+2371del rs755715445
NM_001032283.3(TMPO):c.565+2381G>C rs1877422962
NM_001032283.3(TMPO):c.565+2397A>T
NM_001032283.3(TMPO):c.565+2412A>T
NM_001032283.3(TMPO):c.565+2425C>T rs1268085556
NM_001032283.3(TMPO):c.565+2460G>A
NM_001032283.3(TMPO):c.565+2461_565+2463del rs727503491
NM_001032283.3(TMPO):c.565+2472A>C rs1877431244
NM_001032283.3(TMPO):c.565+2474A>C rs2121211551
NM_001032283.3(TMPO):c.565+2481A>G
NM_001032283.3(TMPO):c.565+995A>C
NM_001032283.3(TMPO):c.565+995_565+998del rs747695132
NM_001032283.3(TMPO):c.5C>T (p.Pro2Leu)
NM_003242.5(TGFBR2):c.-388C>T rs1697919506
NM_003242.6(TGFBR2):c.*1207A>G rs1699738762
NM_003242.6(TGFBR2):c.*1326G>A rs886058320
NM_003242.6(TGFBR2):c.*1327C>G rs1699740473
NM_003242.6(TGFBR2):c.*1715A>G rs559265897
NM_003242.6(TGFBR2):c.*1966A>G rs1699748594
NM_003242.6(TGFBR2):c.*2332A>C rs886058326
NM_003242.6(TGFBR2):c.*2335T>A rs886058327
NM_003242.6(TGFBR2):c.*33A>G rs886058306
NM_003242.6(TGFBR2):c.*3C>A
NM_003242.6(TGFBR2):c.*799A>G rs886058315
NM_003242.6(TGFBR2):c.*859G>A rs548242538
NM_003242.6(TGFBR2):c.-122T>G rs1040386724
NM_003242.6(TGFBR2):c.-18C>A rs753369354
NM_003242.6(TGFBR2):c.-195G>A rs925186023
NM_003242.6(TGFBR2):c.-1C>T
NM_003242.6(TGFBR2):c.-249T>G rs886058299
NM_003242.6(TGFBR2):c.-26G>A rs752752584
NM_003242.6(TGFBR2):c.-9G>A
NM_003242.6(TGFBR2):c.1002G>T (p.Gln334His) rs1699354101
NM_003242.6(TGFBR2):c.1007A>T (p.Tyr336Phe) rs1699354286
NM_003242.6(TGFBR2):c.1016G>C (p.Arg339Pro) rs727503473
NM_003242.6(TGFBR2):c.1021G>C (p.Val341Leu)
NM_003242.6(TGFBR2):c.103G>A (p.Asp35Asn) rs984098699
NM_003242.6(TGFBR2):c.103G>C (p.Asp35His) rs984098699
NM_003242.6(TGFBR2):c.1047G>C (p.Lys349Asn) rs2125435790
NM_003242.6(TGFBR2):c.1063G>T (p.Ala355Ser)
NM_003242.6(TGFBR2):c.1066C>T (p.Arg356Trp) rs199660234
NM_003242.6(TGFBR2):c.1085A>G (p.His362Arg) rs863223842
NM_003242.6(TGFBR2):c.1087A>G (p.Ser363Gly) rs2125436087
NM_003242.6(TGFBR2):c.1092T>A (p.Asp364Glu)
NM_003242.6(TGFBR2):c.1096A>G (p.Thr366Ala) rs777332888
NM_003242.6(TGFBR2):c.1097C>T (p.Thr366Ile)
NM_003242.6(TGFBR2):c.1115A>G (p.Lys372Arg)
NM_003242.6(TGFBR2):c.1120C>T (p.Pro374Ser) rs863223843
NM_003242.6(TGFBR2):c.1121C>T (p.Pro374Leu) rs1057524399
NM_003242.6(TGFBR2):c.1126G>T (p.Val376Leu)
NM_003242.6(TGFBR2):c.1168G>A (p.Asp390Asn) rs2125436704
NM_003242.6(TGFBR2):c.1177T>G (p.Cys393Gly) rs2125436754
NM_003242.6(TGFBR2):c.1194T>G (p.Phe398Leu)
NM_003242.6(TGFBR2):c.1236C>A (p.Asp412Glu) rs1699361148
NM_003242.6(TGFBR2):c.1238T>A (p.Leu413Gln) rs1559467328
NM_003242.6(TGFBR2):c.1243A>G (p.Asn415Asp)
NM_003242.6(TGFBR2):c.1247G>C (p.Ser416Thr)
NM_003242.6(TGFBR2):c.124A>G (p.Asn42Asp)
NM_003242.6(TGFBR2):c.1254+8A>G rs200630803
NM_003242.6(TGFBR2):c.1265C>T (p.Ala422Val)
NM_003242.6(TGFBR2):c.127G>A (p.Gly43Ser)
NM_003242.6(TGFBR2):c.1357G>T (p.Val453Leu)
NM_003242.6(TGFBR2):c.1370T>C (p.Met457Thr)
NM_003242.6(TGFBR2):c.1373C>T (p.Thr458Ile) rs1699394098
NM_003242.6(TGFBR2):c.1386T>G (p.Asn462Lys) rs2125439408
NM_003242.6(TGFBR2):c.1397-12C>A
NM_003242.6(TGFBR2):c.1403A>T (p.Lys468Ile)
NM_003242.6(TGFBR2):c.1427C>T (p.Ser476Phe)
NM_003242.6(TGFBR2):c.1460T>C (p.Met487Thr)
NM_003242.6(TGFBR2):c.1469A>G (p.Asn490Ser)
NM_003242.6(TGFBR2):c.1486G>A (p.Gly496Arg)
NM_003242.6(TGFBR2):c.148C>G (p.Leu50Val) rs1698701049
NM_003242.6(TGFBR2):c.1501C>T (p.Pro501Ser)
NM_003242.6(TGFBR2):c.1507T>C (p.Phe503Leu) rs772201128
NM_003242.6(TGFBR2):c.1524+11_1524+14del
NM_003242.6(TGFBR2):c.1595A>G (p.Gln532Arg)
NM_003242.6(TGFBR2):c.15_25dup (p.Leu9fs) rs1559443652
NM_003242.6(TGFBR2):c.1603_1609delinsA (p.Ala535_Arg537delinsSer)
NM_003242.6(TGFBR2):c.1633G>A (p.Asp545Asn)
NM_003242.6(TGFBR2):c.1635C>G (p.Asp545Glu) rs1178327690
NM_003242.6(TGFBR2):c.1663G>A (p.Glu555Lys) rs1325892805
NM_003242.6(TGFBR2):c.1680C>G (p.Asp560Glu) rs376815143
NM_003242.6(TGFBR2):c.168G>A (p.Val56=)
NM_003242.6(TGFBR2):c.1696A>G (p.Thr566Ala)
NM_003242.6(TGFBR2):c.1699A>G (p.Lys567Glu)
NM_003242.6(TGFBR2):c.190C>A (p.Gln64Lys)
NM_003242.6(TGFBR2):c.202A>G (p.Met68Val)
NM_003242.6(TGFBR2):c.215G>A (p.Ser72Asn) rs764941621
NM_003242.6(TGFBR2):c.221C>A (p.Thr74Asn)
NM_003242.6(TGFBR2):c.226A>C (p.Ile76Leu)
NM_003242.6(TGFBR2):c.227T>C (p.Ile76Thr)
NM_003242.6(TGFBR2):c.235A>G (p.Lys79Glu)
NM_003242.6(TGFBR2):c.256G>T (p.Ala86Ser)
NM_003242.6(TGFBR2):c.281A>C (p.Asn94Thr)
NM_003242.6(TGFBR2):c.296C>T (p.Thr99Ile) rs863223837
NM_003242.6(TGFBR2):c.302G>A (p.Cys101Tyr)
NM_003242.6(TGFBR2):c.310C>A (p.Pro104Thr)
NM_003242.6(TGFBR2):c.310C>T (p.Pro104Ser) rs193922665
NM_003242.6(TGFBR2):c.315G>C (p.Lys105Asn)
NM_003242.6(TGFBR2):c.344A>T (p.Asp115Val)
NM_003242.6(TGFBR2):c.358A>G (p.Lys120Glu) rs2125410292
NM_003242.6(TGFBR2):c.35_55dup (p.Thr18_Arg19insLeuHisIleValLeuTrpThr)
NM_003242.6(TGFBR2):c.383dup (p.Pro129fs) rs79375991
NM_003242.6(TGFBR2):c.385C>G (p.Pro129Ala) rs770216059
NM_003242.6(TGFBR2):c.395C>T (p.Thr132Ile) rs1402755105
NM_003242.6(TGFBR2):c.427T>C (p.Cys143Arg)
NM_003242.6(TGFBR2):c.431A>G (p.Asn144Ser)
NM_003242.6(TGFBR2):c.432T>A (p.Asn144Lys)
NM_003242.6(TGFBR2):c.443T>C (p.Ile148Thr)
NM_003242.6(TGFBR2):c.454+3G>A rs2125410813
NM_003242.6(TGFBR2):c.454G>A (p.Glu152Lys) rs778675253
NM_003242.6(TGFBR2):c.468C>G (p.Ser156Arg)
NM_003242.6(TGFBR2):c.4G>A (p.Gly2Ser)
NM_003242.6(TGFBR2):c.530G>A (p.Gly177Glu)
NM_003242.6(TGFBR2):c.538A>G (p.Ile180Val) rs1699340728
NM_003242.6(TGFBR2):c.544G>A (p.Val182Ile)
NM_003242.6(TGFBR2):c.56G>A (p.Arg19His) rs763085648
NM_003242.6(TGFBR2):c.56G>T (p.Arg19Leu) rs763085648
NM_003242.6(TGFBR2):c.58A>T (p.Ile20Phe)
NM_003242.6(TGFBR2):c.594T>A (p.Ser198Arg)
NM_003242.6(TGFBR2):c.619C>G (p.Arg207Gly)
NM_003242.6(TGFBR2):c.61G>T (p.Ala21Ser)
NM_003242.6(TGFBR2):c.625C>A (p.Leu209Ile)
NM_003242.6(TGFBR2):c.625C>T (p.Leu209Phe) rs1288771489
NM_003242.6(TGFBR2):c.628A>G (p.Met210Val)
NM_003242.6(TGFBR2):c.638G>A (p.Ser213Asn)
NM_003242.6(TGFBR2):c.645C>G (p.His215Gln) rs758827786
NM_003242.6(TGFBR2):c.671G>T (p.Arg224Leu)
NM_003242.6(TGFBR2):c.735G>C (p.Glu245Asp)
NM_003242.6(TGFBR2):c.736C>T (p.Leu246=) rs886058305
NM_003242.6(TGFBR2):c.779A>G (p.Lys260Arg)
NM_003242.6(TGFBR2):c.77C>T (p.Pro26Leu)
NM_003242.6(TGFBR2):c.7C>T (p.Arg3Trp)
NM_003242.6(TGFBR2):c.81C>G (p.His27Gln)
NM_003242.6(TGFBR2):c.835T>C (p.Phe279Leu) rs746824357
NM_003242.6(TGFBR2):c.877A>T (p.Ile293Phe)
NM_003242.6(TGFBR2):c.8G>A (p.Arg3Gln) rs780267559
NM_003242.6(TGFBR2):c.8G>C (p.Arg3Pro)
NM_003242.6(TGFBR2):c.908A>G (p.Asn303Ser) rs2125435026
NM_003242.6(TGFBR2):c.928G>A (p.Ala310Thr) rs1553630181
NM_003242.6(TGFBR2):c.928G>T (p.Ala310Ser) rs1553630181
NM_003242.6(TGFBR2):c.938G>T (p.Arg313Leu) rs200361387
NM_003242.6(TGFBR2):c.967C>G (p.Leu323Val) rs781018006
NM_003242.6(TGFBR2):c.972C>G (p.Ile324Met)
NM_003242.6(TGFBR2):c.98A>G (p.Asn33Ser) rs2125404654

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