ClinVar Miner

List of variants reported as uncertain significance for Loeys-Dietz syndrome 2 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 264
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001032283.3(TMPO):c.565+2368G>A rs138295270 0.00058
NM_001032283.3(TMPO):c.565+1848G>A rs34301677 0.00037
NM_001032283.3(TMPO):c.565+1186T>A rs146364154 0.00017
NM_001032283.3(TMPO):c.565+2182T>C rs571417296 0.00013
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+1617A>G rs771185259 0.00008
NM_001032283.3(TMPO):c.565+2102C>G rs764177808 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_001032283.3(TMPO):c.565+1107C>T rs750751621 0.00005
NM_001032283.3(TMPO):c.565+1824C>G rs373861992 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_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_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_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
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)

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