ClinVar Miner

List of variants studied for Loeys-Dietz syndrome 2 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 472
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HGVS dbSNP gnomAD frequency
NM_001032283.3(TMPO):c.565+2214C>G rs17459334 0.06758
NM_001032283.3(TMPO):c.565+1369C>G rs35969221 0.03471
NM_001032283.3(TMPO):c.565+1665A>G rs11838270 0.02050
NM_001032283.3(TMPO):c.565+1296T>G rs35645287 0.01769
NM_001032283.3(TMPO):c.565+1132T>G rs35998138 0.01742
NM_001032283.3(TMPO):c.565+1853G>C rs35761089 0.01735
NM_001032283.3(TMPO):c.565+2051T>A rs12316677 0.01280
NM_001032283.3(TMPO):c.565+1344G>C rs114939776 0.01252
NM_001032283.3(TMPO):c.565+1890T>G rs80325832 0.01171
NM_001032283.3(TMPO):c.565+2487C>T rs17028450 0.00596
NM_001032283.3(TMPO):c.225G>A (p.Pro75=) rs59027673 0.00554
NM_001032283.3(TMPO):c.565+1240G>A rs139700737 0.00255
NM_001032283.3(TMPO):c.565+1728G>C rs145703021 0.00188
NM_001032283.3(TMPO):c.87C>T (p.Ala29=) rs114074541 0.00153
NM_001032283.3(TMPO):c.565+1696C>T rs141443652 0.00135
NM_001032283.3(TMPO):c.565+1105C>T rs138790561 0.00119
NM_001032283.3(TMPO):c.565+2224A>G rs34983516 0.00098
NM_001032283.3(TMPO):c.350A>G (p.Asn117Ser) rs141387097 0.00064
NM_001032283.3(TMPO):c.565+2149C>T rs34150443 0.00064
NM_001032283.3(TMPO):c.565+2368G>A rs138295270 0.00058
NM_001032283.3(TMPO):c.565+1750C>G rs142981381 0.00038
NM_001032283.3(TMPO):c.565+1848G>A rs34301677 0.00034
NM_001032283.3(TMPO):c.565+1493A>G rs141347778 0.00031
NM_001032283.3(TMPO):c.358C>A (p.Leu120Ile) rs200420073 0.00027
NM_001032283.3(TMPO):c.565+1748T>A rs138388686 0.00025
NM_001032283.3(TMPO):c.252G>T (p.Ala84=) rs727504659 0.00022
NM_001032283.3(TMPO):c.534T>C (p.Asn178=) rs200016687 0.00016
NM_001032283.3(TMPO):c.565+1186T>A rs146364154 0.00015
NM_001032283.3(TMPO):c.565+1298G>A rs370939324 0.00015
NM_001032283.3(TMPO):c.565+2376C>T rs202035749 0.00015
NM_001032283.3(TMPO):c.565+1469A>G rs147812883 0.00014
NM_001032283.3(TMPO):c.280-9T>C rs756782828 0.00012
NM_001032283.3(TMPO):c.565+2182T>C rs571417296 0.00012
NM_001032283.3(TMPO):c.565+1413A>G rs57670957 0.00011
NM_001032283.3(TMPO):c.565+1641A>G rs143232629 0.00011
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+1213G>A rs368211058 0.00008
NM_001032283.3(TMPO):c.565+2387G>A rs201034441 0.00008
NM_001032283.3(TMPO):c.565+1421A>G rs772426890 0.00007
NM_001032283.3(TMPO):c.565+1472G>A rs375628010 0.00007
NM_001032283.3(TMPO):c.565+1617A>G rs771185259 0.00007
NM_001032283.3(TMPO):c.565+2102C>G rs764177808 0.00007
NM_001032283.3(TMPO):c.565+1328G>T rs369208265 0.00006
NM_001032283.3(TMPO):c.565+1709T>C rs374855899 0.00006
NM_001032283.3(TMPO):c.81G>T (p.Leu27=) rs549257131 0.00006
NM_001032283.3(TMPO):c.13C>T (p.Leu5=) rs149067616 0.00005
NM_001032283.3(TMPO):c.249C>T (p.Ala83=) rs747943302 0.00005
NM_001032283.3(TMPO):c.565+1107C>T rs750751621 0.00005
NM_001032283.3(TMPO):c.565+1304T>A rs142500409 0.00005
NM_001032283.3(TMPO):c.565+1317C>T rs376074187 0.00005
NM_001032283.3(TMPO):c.565+1824C>G rs373861992 0.00005
NM_001032283.3(TMPO):c.565+1826C>T rs748037231 0.00005
NM_001032283.3(TMPO):c.565+2196A>G rs369840957 0.00005
NM_001032283.3(TMPO):c.565+2361G>T rs746160070 0.00005
NM_001032283.3(TMPO):c.108G>T (p.Val36=) rs532884813 0.00004
NM_001032283.3(TMPO):c.128A>G (p.Gln43Arg) rs371427406 0.00004
NM_001032283.3(TMPO):c.270C>G (p.Ala90=) rs538702194 0.00004
NM_001032283.3(TMPO):c.280-8G>A rs943754313 0.00004
NM_001032283.3(TMPO):c.565+1277G>A rs766680788 0.00004
NM_001032283.3(TMPO):c.565+1310G>C rs779961791 0.00004
NM_001032283.3(TMPO):c.565+1574G>A rs756784841 0.00004
NM_001032283.3(TMPO):c.565+1675A>G rs370366685 0.00004
NM_001032283.3(TMPO):c.565+1958G>T rs143845319 0.00004
NM_001032283.3(TMPO):c.565+2095A>C rs557983360 0.00004
NM_001032283.3(TMPO):c.565+2188C>T rs763238672 0.00004
NM_001032283.3(TMPO):c.152C>T (p.Pro51Leu) rs751968708 0.00003
NM_001032283.3(TMPO):c.231C>T (p.Leu77=) rs139576816 0.00003
NM_001032283.3(TMPO):c.279+17G>A rs761081417 0.00003
NM_001032283.3(TMPO):c.318T>A (p.Asp106Glu) rs772509210 0.00003
NM_001032283.3(TMPO):c.330A>G (p.Leu110=) rs776054749 0.00003
NM_001032283.3(TMPO):c.331G>C (p.Asp111His) rs201838047 0.00003
NM_001032283.3(TMPO):c.370C>T (p.Leu124Phe) rs375619307 0.00003
NM_001032283.3(TMPO):c.529A>G (p.Ser177Gly) rs765922156 0.00003
NM_001032283.3(TMPO):c.565+1287A>G rs534940271 0.00003
NM_001032283.3(TMPO):c.565+1301A>G rs375249647 0.00003
NM_001032283.3(TMPO):c.565+1414G>A rs1381728541 0.00003
NM_001032283.3(TMPO):c.565+1508_565+1509del rs774334407 0.00003
NM_001032283.3(TMPO):c.565+1616T>C rs147635314 0.00003
NM_001032283.3(TMPO):c.565+1782G>A rs763388598 0.00003
NM_001032283.3(TMPO):c.565+1917A>G rs727505217 0.00003
NM_001032283.3(TMPO):c.565+1982A>C rs766190912 0.00003
NM_001032283.3(TMPO):c.565+2104A>G rs766567371 0.00003
NM_001032283.3(TMPO):c.565+2150A>G rs200856956 0.00003
NM_001032283.3(TMPO):c.565+2247C>T rs369379490 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_001032283.3(TMPO):c.565+2504G>A rs145677259 0.00003
NM_001032283.3(TMPO):c.153G>A (p.Pro51=) rs755323971 0.00002
NM_001032283.3(TMPO):c.213C>G (p.Arg71=) rs910746839 0.00002
NM_001032283.3(TMPO):c.248C>T (p.Ala83Val) rs730880228 0.00002
NM_001032283.3(TMPO):c.296C>G (p.Thr99Ser) rs529351559 0.00002
NM_001032283.3(TMPO):c.380A>G (p.Tyr127Cys) rs1259294108 0.00002
NM_001032283.3(TMPO):c.386T>G (p.Val129Gly) rs533418524 0.00002
NM_001032283.3(TMPO):c.497C>A (p.Ser166Tyr) rs147012167 0.00002
NM_001032283.3(TMPO):c.51G>A (p.Lys17=) rs766680931 0.00002
NM_001032283.3(TMPO):c.565+1007A>G rs746022820 0.00002
NM_001032283.3(TMPO):c.565+1069G>A rs1319309709 0.00002
NM_001032283.3(TMPO):c.565+1078A>G rs774074641 0.00002
NM_001032283.3(TMPO):c.565+1108G>A rs758666714 0.00002
NM_001032283.3(TMPO):c.565+1179G>T rs569630929 0.00002
NM_001032283.3(TMPO):c.565+1232C>T rs369897433 0.00002
NM_001032283.3(TMPO):c.565+1246T>C rs144465114 0.00002
NM_001032283.3(TMPO):c.565+1420A>G rs1278196276 0.00002
NM_001032283.3(TMPO):c.565+1449A>G rs754951098 0.00002
NM_001032283.3(TMPO):c.565+1468A>G rs202106275 0.00002
NM_001032283.3(TMPO):c.565+1597T>C rs1227785613 0.00002
NM_001032283.3(TMPO):c.565+1724G>C rs181830203 0.00002
NM_001032283.3(TMPO):c.565+1805A>C rs767027388 0.00002
NM_001032283.3(TMPO):c.565+1829dup rs1877366767 0.00002
NM_001032283.3(TMPO):c.565+1905G>T rs2121207714 0.00002
NM_001032283.3(TMPO):c.565+1956C>T rs758463592 0.00002
NM_001032283.3(TMPO):c.565+2128G>A rs147803339 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.565+2426T>C rs1877426910 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_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.219C>G (p.Pro73=) rs1464689689 0.00001
NM_001032283.3(TMPO):c.221C>T (p.Thr74Ile) rs759899689 0.00001
NM_001032283.3(TMPO):c.228C>T (p.Val76=) rs760772599 0.00001
NM_001032283.3(TMPO):c.229C>T (p.Leu77Phe) rs1198782983 0.00001
NM_001032283.3(TMPO):c.236C>T (p.Ser79Phe) rs757406049 0.00001
NM_001032283.3(TMPO):c.238G>A (p.Gly80Arg) rs780142223 0.00001
NM_001032283.3(TMPO):c.263G>A (p.Arg88Gln) rs774853700 0.00001
NM_001032283.3(TMPO):c.267A>T (p.Ala89=) rs1055056946 0.00001
NM_001032283.3(TMPO):c.279+11G>C rs772520813 0.00001
NM_001032283.3(TMPO):c.279G>A (p.Arg93=) rs759987514 0.00001
NM_001032283.3(TMPO):c.289A>G (p.Lys97Glu) rs778356103 0.00001
NM_001032283.3(TMPO):c.306C>T (p.Pro102=) rs1158896182 0.00001
NM_001032283.3(TMPO):c.328C>T (p.Leu110=) rs1302280025 0.00001
NM_001032283.3(TMPO):c.36A>G (p.Thr12=) rs758798967 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.399T>C (p.Pro133=) rs1733972268 0.00001
NM_001032283.3(TMPO):c.407-4C>T rs1877200530 0.00001
NM_001032283.3(TMPO):c.471A>G (p.Arg157=) rs1480715662 0.00001
NM_001032283.3(TMPO):c.478A>C (p.Thr160Pro) rs770948908 0.00001
NM_001032283.3(TMPO):c.517A>G (p.Arg173Gly) rs1430201856 0.00001
NM_001032283.3(TMPO):c.519G>A (p.Arg173=) rs761604324 0.00001
NM_001032283.3(TMPO):c.557A>G (p.Asn186Ser) rs200923649 0.00001
NM_001032283.3(TMPO):c.565+1009T>C rs1014307018 0.00001
NM_001032283.3(TMPO):c.565+1017A>G rs758500418 0.00001
NM_001032283.3(TMPO):c.565+1048G>C rs1877293542 0.00001
NM_001032283.3(TMPO):c.565+1053A>G rs769778970 0.00001
NM_001032283.3(TMPO):c.565+1103C>T rs188308994 0.00001
NM_001032283.3(TMPO):c.565+1104A>C rs764732034 0.00001
NM_001032283.3(TMPO):c.565+1106C>A rs757659026 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+1220G>A rs781091247 0.00001
NM_001032283.3(TMPO):c.565+1260A>C rs779869644 0.00001
NM_001032283.3(TMPO):c.565+1275A>G rs763320036 0.00001
NM_001032283.3(TMPO):c.565+1279G>A rs751811256 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+1319C>T rs780889526 0.00001
NM_001032283.3(TMPO):c.565+1327T>C rs1325196944 0.00001
NM_001032283.3(TMPO):c.565+1346T>G rs774747367 0.00001
NM_001032283.3(TMPO):c.565+1372C>T rs966227304 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+1409C>T rs371441559 0.00001
NM_001032283.3(TMPO):c.565+1410G>A rs774919594 0.00001
NM_001032283.3(TMPO):c.565+1471C>T rs779303657 0.00001
NM_001032283.3(TMPO):c.565+1474C>T rs1254912268 0.00001
NM_001032283.3(TMPO):c.565+1485A>G rs730880229 0.00001
NM_001032283.3(TMPO):c.565+1499A>G rs776923796 0.00001
NM_001032283.3(TMPO):c.565+1532G>A rs1336852045 0.00001
NM_001032283.3(TMPO):c.565+1559T>C rs760459470 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+1609C>G rs891817432 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+1633T>C rs149120802 0.00001
NM_001032283.3(TMPO):c.565+1643A>G rs763852580 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+1664dup rs1261891552 0.00001
NM_001032283.3(TMPO):c.565+1688G>T rs577869374 0.00001
NM_001032283.3(TMPO):c.565+1790G>A rs1877360788 0.00001
NM_001032283.3(TMPO):c.565+1809G>A rs1450805694 0.00001
NM_001032283.3(TMPO):c.565+1817T>C rs143185150 0.00001
NM_001032283.3(TMPO):c.565+1873T>C rs1238424266 0.00001
NM_001032283.3(TMPO):c.565+1907A>G rs372248802 0.00001
NM_001032283.3(TMPO):c.565+1911A>G rs754188509 0.00001
NM_001032283.3(TMPO):c.565+1935T>C rs1375655151 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+1979T>C rs777452560 0.00001
NM_001032283.3(TMPO):c.565+1983del rs1241598109 0.00001
NM_001032283.3(TMPO):c.565+1997G>A rs375056835 0.00001
NM_001032283.3(TMPO):c.565+19T>C rs749586558 0.00001
NM_001032283.3(TMPO):c.565+2002C>T rs2121208214 0.00001
NM_001032283.3(TMPO):c.565+2029A>G rs200717863 0.00001
NM_001032283.3(TMPO):c.565+2079C>T rs144269053 0.00001
NM_001032283.3(TMPO):c.565+2081A>G rs760171602 0.00001
NM_001032283.3(TMPO):c.565+2092C>A rs563175204 0.00001
NM_001032283.3(TMPO):c.565+2169A>G rs768195224 0.00001
NM_001032283.3(TMPO):c.565+2170C>G rs777048063 0.00001
NM_001032283.3(TMPO):c.565+2178G>A rs1343917914 0.00001
NM_001032283.3(TMPO):c.565+2236C>G rs746645331 0.00001
NM_001032283.3(TMPO):c.565+2253C>T rs201929673 0.00001
NM_001032283.3(TMPO):c.565+2260C>T rs367769644 0.00001
NM_001032283.3(TMPO):c.565+2273G>A rs977042843 0.00001
NM_001032283.3(TMPO):c.565+2300T>C rs573799737 0.00001
NM_001032283.3(TMPO):c.565+2315A>G rs1167162706 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+2357C>T rs2548505168 0.00001
NM_001032283.3(TMPO):c.565+2362T>C rs1439982638 0.00001
NM_001032283.3(TMPO):c.565+2367C>T rs772424658 0.00001
NM_001032283.3(TMPO):c.565+2399T>A rs576517565 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+8T>C rs545742855 0.00001
NM_001032283.3(TMPO):c.565+995A>C rs1056300777 0.00001
NM_001032283.3(TMPO):c.565+999C>T rs138259721 0.00001
NM_001032283.3(TMPO):c.565+9T>G rs753196252 0.00001
NM_001032283.3(TMPO):c.5C>T (p.Pro2Leu) rs1875745280 0.00001
NM_001032283.3(TMPO):c.72T>C (p.Asn24=) rs201960762 0.00001
NM_001032283.3(TMPO):c.84G>A (p.Pro28=) rs199549942 0.00001
NM_001032283.3(TMPO):c.88G>C (p.Gly30Arg) rs1555201569 0.00001
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.105C>T (p.Asp35=) rs1875752554
NM_001032283.3(TMPO):c.108G>C (p.Val36=) rs532884813
NM_001032283.3(TMPO):c.111C>T (p.Tyr37=) rs1299226116
NM_001032283.3(TMPO):c.114C>A (p.Val38=) rs200619128
NM_001032283.3(TMPO):c.117G>C (p.Gln39His) rs1285673694
NM_001032283.3(TMPO):c.133C>T (p.Leu45Phe) rs1490105931
NM_001032283.3(TMPO):c.137C>G (p.Thr46Arg) rs776416936
NM_001032283.3(TMPO):c.146A>G (p.Asn49Ser)
NM_001032283.3(TMPO):c.150G>A (p.Arg50=) rs1405113817
NM_001032283.3(TMPO):c.170C>A (p.Thr57Asn) rs750410131
NM_001032283.3(TMPO):c.170C>G (p.Thr57Ser) rs750410131
NM_001032283.3(TMPO):c.170C>T (p.Thr57Ile) rs750410131
NM_001032283.3(TMPO):c.173A>G (p.Asn58Ser)
NM_001032283.3(TMPO):c.174C>G (p.Asn58Lys) rs1220040656
NM_001032283.3(TMPO):c.183G>A (p.Gly61=) rs780119963
NM_001032283.3(TMPO):c.185C>T (p.Pro62Leu) rs746863579
NM_001032283.3(TMPO):c.186C>T (p.Pro62=) rs927921003
NM_001032283.3(TMPO):c.189G>A (p.Pro63=) rs780907463
NM_001032283.3(TMPO):c.197C>T (p.Ser66Phe)
NM_001032283.3(TMPO):c.210G>T (p.Glu70Asp) rs1875768808
NM_001032283.3(TMPO):c.234C>G (p.Gly78=) rs753917997
NM_001032283.3(TMPO):c.234C>T (p.Gly78=) rs753917997
NM_001032283.3(TMPO):c.247G>A (p.Ala83Thr)
NM_001032283.3(TMPO):c.251C>T (p.Ala84Val) rs769379071
NM_001032283.3(TMPO):c.256C>G (p.Arg86Gly) rs1875778307
NM_001032283.3(TMPO):c.26C>T (p.Ser9Leu) rs1285853015
NM_001032283.3(TMPO):c.272T>C (p.Val91Ala) rs2548489174
NM_001032283.3(TMPO):c.273C>A (p.Val91=) rs1459534403
NM_001032283.3(TMPO):c.274G>A (p.Gly92Ser) rs1201669937
NM_001032283.3(TMPO):c.278G>A (p.Arg93Lys) rs1555201635
NM_001032283.3(TMPO):c.279+14dup rs749108666
NM_001032283.3(TMPO):c.279+16C>T rs1010758415
NM_001032283.3(TMPO):c.279+4A>C rs1875782829
NM_001032283.3(TMPO):c.27G>C (p.Ser9=)
NM_001032283.3(TMPO):c.280-11T>G rs2548498763
NM_001032283.3(TMPO):c.280-13A>G rs1244858960
NM_001032283.3(TMPO):c.280-13A>T rs1244858960
NM_001032283.3(TMPO):c.280-18A>G rs777297343
NM_001032283.3(TMPO):c.280-4A>G rs1363248068
NM_001032283.3(TMPO):c.284C>T (p.Ala95Val) rs1565808154
NM_001032283.3(TMPO):c.287C>T (p.Thr96Ile) rs1876900973
NM_001032283.3(TMPO):c.308G>C (p.Arg103Thr) rs1361401032
NM_001032283.3(TMPO):c.324T>A (p.Asp108Glu) rs2548498858
NM_001032283.3(TMPO):c.327T>A (p.Asp109Glu)
NM_001032283.3(TMPO):c.341_342del (p.Glu114fs)
NM_001032283.3(TMPO):c.351T>C (p.Asn117=)
NM_001032283.3(TMPO):c.357T>G (p.Asp119Glu) rs765524061
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.381C>T (p.Tyr127=) rs370093524
NM_001032283.3(TMPO):c.383G>A (p.Gly128Glu) rs886049910
NM_001032283.3(TMPO):c.391C>T (p.Pro131Ser) rs2548499011
NM_001032283.3(TMPO):c.396T>A (p.Gly132=) rs397516844
NM_001032283.3(TMPO):c.400A>C (p.Ile134Leu) rs745442874
NM_001032283.3(TMPO):c.400A>T (p.Ile134Phe) rs745442874
NM_001032283.3(TMPO):c.407-17G>C
NM_001032283.3(TMPO):c.423A>G (p.Leu141=) rs750999829
NM_001032283.3(TMPO):c.429G>A (p.Glu143=) rs755557300
NM_001032283.3(TMPO):c.441G>A (p.Leu147=) rs2121195450
NM_001032283.3(TMPO):c.443A>G (p.Lys148Arg) rs2121195483
NM_001032283.3(TMPO):c.444del (p.Lys148fs)
NM_001032283.3(TMPO):c.460A>C (p.Thr154Pro) rs2548501708
NM_001032283.3(TMPO):c.462A>G (p.Thr154=) rs2121195654
NM_001032283.3(TMPO):c.472TCT[1] (p.Ser159del) rs754290044
NM_001032283.3(TMPO):c.476C>T (p.Ser159Phe) rs183244086
NM_001032283.3(TMPO):c.478_480del (p.Thr160del) rs2548501750
NM_001032283.3(TMPO):c.479C>T (p.Thr160Ile) rs774531403
NM_001032283.3(TMPO):c.482C>A (p.Pro161His) rs1877210566
NM_001032283.3(TMPO):c.482C>T (p.Pro161Leu) rs1877210566
NM_001032283.3(TMPO):c.485T>A (p.Leu162Gln) rs2121195897
NM_001032283.3(TMPO):c.485T>G (p.Leu162Arg) rs2121195897
NM_001032283.3(TMPO):c.48G>A (p.Leu16=) rs2121092959
NM_001032283.3(TMPO):c.493A>G (p.Ile165Val) rs2548501767
NM_001032283.3(TMPO):c.503CAG[1] (p.Ala169del) rs2548501783
NM_001032283.3(TMPO):c.506C>G (p.Ala169Gly) rs2548501793
NM_001032283.3(TMPO):c.528A>G (p.Gly176=) rs2548501823
NM_001032283.3(TMPO):c.52A>G (p.Ser18Gly) rs2121093002
NM_001032283.3(TMPO):c.560A>G (p.Glu187Gly)
NM_001032283.3(TMPO):c.565+1005A>G rs1336665930
NM_001032283.3(TMPO):c.565+1012A>C rs1877291034
NM_001032283.3(TMPO):c.565+1018C>G rs1402477287
NM_001032283.3(TMPO):c.565+1019T>C
NM_001032283.3(TMPO):c.565+1026A>G rs1447801243
NM_001032283.3(TMPO):c.565+1029G>T
NM_001032283.3(TMPO):c.565+1033C>A
NM_001032283.3(TMPO):c.565+1033C>T rs747066370
NM_001032283.3(TMPO):c.565+1048G>A rs1877293542
NM_001032283.3(TMPO):c.565+1062_565+1063delinsTT rs2548502784
NM_001032283.3(TMPO):c.565+1084T>A rs767247716
NM_001032283.3(TMPO):c.565+1114C>T rs754944353
NM_001032283.3(TMPO):c.565+1120G>C rs2548502852
NM_001032283.3(TMPO):c.565+1127C>G rs777779709
NM_001032283.3(TMPO):c.565+1127C>T rs777779709
NM_001032283.3(TMPO):c.565+1128G>T rs770791830
NM_001032283.3(TMPO):c.565+1153A>T
NM_001032283.3(TMPO):c.565+1154T>C rs2548502894
NM_001032283.3(TMPO):c.565+1161A>G rs2121202826
NM_001032283.3(TMPO):c.565+1168A>T rs370585407
NM_001032283.3(TMPO):c.565+1199C>T rs2121203040
NM_001032283.3(TMPO):c.565+1231C>T
NM_001032283.3(TMPO):c.565+1257T>C rs1877309895
NM_001032283.3(TMPO):c.565+1272del rs868100288
NM_001032283.3(TMPO):c.565+1273A>G rs146158243
NM_001032283.3(TMPO):c.565+1302T>C rs1244496132
NM_001032283.3(TMPO):c.565+1312C>G rs2548503110
NM_001032283.3(TMPO):c.565+1320A>C rs747613142
NM_001032283.3(TMPO):c.565+1334C>T rs889989804
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+1374A>C rs760685984
NM_001032283.3(TMPO):c.565+1378G>A rs2548503240
NM_001032283.3(TMPO):c.565+1382C>T rs2121204053
NM_001032283.3(TMPO):c.565+1439A>C rs1877327751
NM_001032283.3(TMPO):c.565+1448G>A rs1877328100
NM_001032283.3(TMPO):c.565+1456A>G
NM_001032283.3(TMPO):c.565+1467C>G rs200124801
NM_001032283.3(TMPO):c.565+1467C>T rs200124801
NM_001032283.3(TMPO):c.565+1474CT[2] rs1359210478
NM_001032283.3(TMPO):c.565+1532G>T rs1336852045
NM_001032283.3(TMPO):c.565+1536_565+1543del rs745639054
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 rs147002330
NM_001032283.3(TMPO):c.565+1587G>A rs1877341732
NM_001032283.3(TMPO):c.565+1590G>A rs2548503632
NM_001032283.3(TMPO):c.565+1595T>G rs2548503645
NM_001032283.3(TMPO):c.565+15G>T
NM_001032283.3(TMPO):c.565+1611A>C rs946275644
NM_001032283.3(TMPO):c.565+1613C>T rs1442003754
NM_001032283.3(TMPO):c.565+1615_565+1616del
NM_001032283.3(TMPO):c.565+1637A>G rs2548503724
NM_001032283.3(TMPO):c.565+1642T>C
NM_001032283.3(TMPO):c.565+1692C>A rs879040481
NM_001032283.3(TMPO):c.565+1692C>T rs879040481
NM_001032283.3(TMPO):c.565+1705T>A
NM_001032283.3(TMPO):c.565+1708C>T rs1355976101
NM_001032283.3(TMPO):c.565+1718_565+1721del
NM_001032283.3(TMPO):c.565+1725T>A rs2548503953
NM_001032283.3(TMPO):c.565+1774C>G rs762576951
NM_001032283.3(TMPO):c.565+1781C>T rs371731646
NM_001032283.3(TMPO):c.565+1795C>A rs1877361719
NM_001032283.3(TMPO):c.565+1807C>G rs778992198
NM_001032283.3(TMPO):c.565+1808T>C rs1877363063
NM_001032283.3(TMPO):c.565+1813TC[2] rs1877364478
NM_001032283.3(TMPO):c.565+1814C>G rs1877364689
NM_001032283.3(TMPO):c.565+1819A>G rs1479099731
NM_001032283.3(TMPO):c.565+1836G>C
NM_001032283.3(TMPO):c.565+1867A>T
NM_001032283.3(TMPO):c.565+1872A>G rs1060502979
NM_001032283.3(TMPO):c.565+1878G>A rs1877372287
NM_001032283.3(TMPO):c.565+1880C>A rs1351997207
NM_001032283.3(TMPO):c.565+1928del rs1442448525
NM_001032283.3(TMPO):c.565+1932G>A rs1438230077
NM_001032283.3(TMPO):c.565+1954A>G
NM_001032283.3(TMPO):c.565+1958G>A rs143845319
NM_001032283.3(TMPO):c.565+1964A>C rs2548504369
NM_001032283.3(TMPO):c.565+1987C>A
NM_001032283.3(TMPO):c.565+1995G>A rs2548504418
NM_001032283.3(TMPO):c.565+2014C>G rs2121208283
NM_001032283.3(TMPO):c.565+2016G>A
NM_001032283.3(TMPO):c.565+2019C>A rs764610443
NM_001032283.3(TMPO):c.565+2022A>G rs1043570394
NM_001032283.3(TMPO):c.565+2026T>C rs1555203926
NM_001032283.3(TMPO):c.565+2044G>T rs530601901
NM_001032283.3(TMPO):c.565+2049A>G
NM_001032283.3(TMPO):c.565+2058G>T rs2548504553
NM_001032283.3(TMPO):c.565+2067C>G rs745484180
NM_001032283.3(TMPO):c.565+2069A>G
NM_001032283.3(TMPO):c.565+2079C>G
NM_001032283.3(TMPO):c.565+2085G>A rs769043908
NM_001032283.3(TMPO):c.565+2099T>C rs1592946403
NM_001032283.3(TMPO):c.565+2101G>A rs774064196
NM_001032283.3(TMPO):c.565+2101G>T rs774064196
NM_001032283.3(TMPO):c.565+2102C>A rs764177808
NM_001032283.3(TMPO):c.565+2135A>G rs1284474609
NM_001032283.3(TMPO):c.565+2154G>A
NM_001032283.3(TMPO):c.565+2162G>C
NM_001032283.3(TMPO):c.565+2170C>T rs777048063
NM_001032283.3(TMPO):c.565+2172C>T rs1565812072
NM_001032283.3(TMPO):c.565+2173A>T rs753557227
NM_001032283.3(TMPO):c.565+2173dup
NM_001032283.3(TMPO):c.565+2175A>G rs1877399544
NM_001032283.3(TMPO):c.565+2175_565+2176del rs1565812077
NM_001032283.3(TMPO):c.565+2179C>T rs2548504799
NM_001032283.3(TMPO):c.565+2180C>T rs748689543
NM_001032283.3(TMPO):c.565+2192G>A rs760897364
NM_001032283.3(TMPO):c.565+2197T>C rs1877401842
NM_001032283.3(TMPO):c.565+2210T>C rs752783130
NM_001032283.3(TMPO):c.565+2219T>G rs2548504903
NM_001032283.3(TMPO):c.565+2220G>A rs2548504905
NM_001032283.3(TMPO):c.565+2222A>C rs1592946627
NM_001032283.3(TMPO):c.565+2229C>G rs1191424030
NM_001032283.3(TMPO):c.565+2247C>G rs369379490
NM_001032283.3(TMPO):c.565+2251C>T rs1877409856
NM_001032283.3(TMPO):c.565+2256C>G
NM_001032283.3(TMPO):c.565+2261G>A rs373227285
NM_001032283.3(TMPO):c.565+2261G>C rs373227285
NM_001032283.3(TMPO):c.565+2261G>T rs373227285
NM_001032283.3(TMPO):c.565+2271C>T rs2548505029
NM_001032283.3(TMPO):c.565+2280A>G rs1877412049
NM_001032283.3(TMPO):c.565+2281C>T rs1877412433
NM_001032283.3(TMPO):c.565+2281_565+2282del
NM_001032283.3(TMPO):c.565+2284A>G
NM_001032283.3(TMPO):c.565+2284_565+2285del rs767209319
NM_001032283.3(TMPO):c.565+2292G>A rs1877414127
NM_001032283.3(TMPO):c.565+2297A>G rs377465206
NM_001032283.3(TMPO):c.565+2299A>G rs766232053
NM_001032283.3(TMPO):c.565+2324A>G
NM_001032283.3(TMPO):c.565+2339C>G rs749772850
NM_001032283.3(TMPO):c.565+2340C>G rs1877418406
NM_001032283.3(TMPO):c.565+2340C>T rs1877418406
NM_001032283.3(TMPO):c.565+2346A>G rs1565812255
NM_001032283.3(TMPO):c.565+2353A>G rs1335078305
NM_001032283.3(TMPO):c.565+2365G>A
NM_001032283.3(TMPO):c.565+2367C>G rs772424658
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 rs2548505246
NM_001032283.3(TMPO):c.565+2402T>C rs1592947011
NM_001032283.3(TMPO):c.565+2412A>T rs2548505268
NM_001032283.3(TMPO):c.565+2421C>T rs2121211142
NM_001032283.3(TMPO):c.565+2425C>T rs1268085556
NM_001032283.3(TMPO):c.565+2458G>C
NM_001032283.3(TMPO):c.565+2460G>A rs2548505338
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 rs1482407845
NM_001032283.3(TMPO):c.565+2494A>G
NM_001032283.3(TMPO):c.565+981A>G rs886049911
NM_001032283.3(TMPO):c.565+995_565+998del rs747695132
NM_001032283.3(TMPO):c.63C>A (p.Val21=) rs2548488713
NM_001032283.3(TMPO):c.66C>T (p.Ala22=) rs1875748424

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