ClinVar Miner

List of variants reported as likely benign for Loeys-Dietz syndrome 2

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 236
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HGVS dbSNP gnomAD frequency
NM_003242.6(TGFBR2):c.*1507A>G rs139938413 0.00439
NM_003242.6(TGFBR2):c.*1815C>T rs146296952 0.00421
NM_003242.6(TGFBR2):c.*149A>T rs143024112 0.00415
NM_003242.6(TGFBR2):c.*105G>A rs149112005 0.00377
NM_001032283.3(TMPO):c.565+1696C>T rs141443652 0.00142
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr) rs112215250 0.00115
NM_001032283.3(TMPO):c.565+2224A>G rs34983516 0.00098
NM_003242.6(TGFBR2):c.106A>G (p.Met36Val) rs17025864 0.00092
NM_001032283.3(TMPO):c.350A>G (p.Asn117Ser) rs141387097 0.00068
NM_001032283.3(TMPO):c.565+2149C>T rs34150443 0.00064
NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile) rs56105708 0.00039
NM_001032283.3(TMPO):c.565+1750C>G rs142981381 0.00038
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812 0.00034
NM_001032283.3(TMPO):c.565+1493A>G rs141347778 0.00031
NM_003242.6(TGFBR2):c.915C>T (p.Leu305=) rs146030104 0.00026
NM_001032283.3(TMPO):c.565+1748T>A rs138388686 0.00025
NM_001032283.3(TMPO):c.252G>T (p.Ala84=) rs727504659 0.00022
NM_003242.6(TGFBR2):c.1548G>A (p.Thr516=) rs140662877 0.00021
NM_003242.6(TGFBR2):c.678C>T (p.Asp226=) rs147111149 0.00019
NM_003242.6(TGFBR2):c.984C>T (p.His328=) rs193922666 0.00018
NM_001032283.3(TMPO):c.534T>C (p.Asn178=) rs200016687 0.00016
NM_001032283.3(TMPO):c.565+2376C>T rs202035749 0.00015
NM_001032283.3(TMPO):c.565+1469A>G rs147812883 0.00014
NM_003242.6(TGFBR2):c.747G>C (p.Leu249=) rs772907386 0.00014
NM_003242.6(TGFBR2):c.1356G>T (p.Leu452=) rs997766869 0.00011
NM_003242.6(TGFBR2):c.1092T>C (p.Asp364=) rs149195553 0.00010
NM_001032283.3(TMPO):c.565+2387G>A rs201034441 0.00008
NM_001032283.3(TMPO):c.565+1472G>A rs375628010 0.00007
NM_003242.6(TGFBR2):c.1464G>A (p.Lys488=) rs753282415 0.00007
NM_001032283.3(TMPO):c.249C>T (p.Ala83=) rs747943302 0.00006
NM_001032283.3(TMPO):c.565+1709T>C rs374855899 0.00006
NM_003242.6(TGFBR2):c.570C>T (p.Arg190=) rs143775631 0.00006
NM_001032283.3(TMPO):c.13C>T (p.Leu5=) rs149067616 0.00005
NM_001032283.3(TMPO):c.565+1413A>G rs57670957 0.00005
NM_003242.6(TGFBR2):c.567C>T (p.Tyr189=) rs371221124 0.00005
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+1304T>A rs142500409 0.00004
NM_001032283.3(TMPO):c.565+1574G>A rs756784841 0.00004
NM_001032283.3(TMPO):c.565+1958G>T rs143845319 0.00004
NM_003242.6(TGFBR2):c.126C>T (p.Asn42=) rs574133875 0.00004
NM_003242.6(TGFBR2):c.1569C>T (p.His523=) rs760107571 0.00004
NM_003242.6(TGFBR2):c.609C>T (p.Thr203=) rs769938385 0.00004
NM_003242.6(TGFBR2):c.696C>T (p.Ala232=) rs768508812 0.00004
NM_003242.6(TGFBR2):c.69G>T (p.Thr23=) rs878854612 0.00004
NM_003242.6(TGFBR2):c.975C>T (p.Thr325=) rs532098604 0.00004
NM_001032283.3(TMPO):c.213C>G (p.Arg71=) rs910746839 0.00003
NM_001032283.3(TMPO):c.330A>G (p.Leu110=) rs776054749 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+1616T>C rs147635314 0.00003
NM_001032283.3(TMPO):c.565+1982A>C rs766190912 0.00003
NM_001032283.3(TMPO):c.565+2504G>A rs145677259 0.00003
NM_003242.6(TGFBR2):c.1680C>T (p.Asp560=) rs376815143 0.00003
NM_003242.6(TGFBR2):c.276C>T (p.Asp92=) rs774840447 0.00003
NM_003242.6(TGFBR2):c.639C>T (p.Ser213=) rs200332401 0.00003
NM_003242.6(TGFBR2):c.690G>A (p.Thr230=) rs201560560 0.00003
NM_003242.6(TGFBR2):c.708C>T (p.Asn236=) rs141554621 0.00003
NM_001032283.3(TMPO):c.153G>A (p.Pro51=) rs755323971 0.00002
NM_001032283.3(TMPO):c.51G>A (p.Lys17=) rs766680931 0.00002
NM_001032283.3(TMPO):c.565+1232C>T rs369897433 0.00002
NM_001032283.3(TMPO):c.565+2150A>G rs200856956 0.00002
NM_003242.6(TGFBR2):c.1048C>T (p.Leu350=) rs755843367 0.00002
NM_003242.6(TGFBR2):c.1158C>T (p.Leu386=) rs757158964 0.00002
NM_003242.6(TGFBR2):c.1407T>C (p.Asp469=) rs573025864 0.00002
NM_003242.6(TGFBR2):c.1476G>A (p.Leu492=) rs1006428695 0.00002
NM_003242.6(TGFBR2):c.927G>A (p.Thr309=) rs756625146 0.00002
NM_001032283.3(TMPO):c.183G>A (p.Gly61=) rs780119963 0.00001
NM_001032283.3(TMPO):c.219C>G (p.Pro73=) rs1464689689 0.00001
NM_001032283.3(TMPO):c.228C>T (p.Val76=) rs760772599 0.00001
NM_001032283.3(TMPO):c.238G>A (p.Gly80Arg) rs780142223 0.00001
NM_001032283.3(TMPO):c.279+11G>C rs772520813 0.00001
NM_001032283.3(TMPO):c.328C>T (p.Leu110=) rs1302280025 0.00001
NM_001032283.3(TMPO):c.557A>G (p.Asn186Ser) rs200923649 0.00001
NM_001032283.3(TMPO):c.565+1103C>T rs188308994 0.00001
NM_001032283.3(TMPO):c.565+1346T>G rs774747367 0.00001
NM_001032283.3(TMPO):c.565+1409C>T rs371441559 0.00001
NM_001032283.3(TMPO):c.565+1468A>G rs202106275 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+1907A>G rs372248802 0.00001
NM_001032283.3(TMPO):c.565+1979T>C rs777452560 0.00001
NM_001032283.3(TMPO):c.565+1997G>A rs375056835 0.00001
NM_001032283.3(TMPO):c.565+2081A>G rs760171602 0.00001
NM_001032283.3(TMPO):c.565+2273G>A rs977042843 0.00001
NM_001032283.3(TMPO):c.565+2399T>A rs576517565 0.00001
NM_001032283.3(TMPO):c.565+8T>C rs545742855 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_003242.6(TGFBR2):c.1014G>A (p.Thr338=) rs764720370 0.00001
NM_003242.6(TGFBR2):c.1116G>A (p.Lys372=) rs753782498 0.00001
NM_003242.6(TGFBR2):c.1125C>T (p.Ile375=) rs751663055 0.00001
NM_003242.6(TGFBR2):c.1173A>G (p.Leu391=) rs1013308477 0.00001
NM_003242.6(TGFBR2):c.1185G>C (p.Leu395=) rs193922663 0.00001
NM_003242.6(TGFBR2):c.1210C>T (p.Leu404=) rs1253996257 0.00001
NM_003242.6(TGFBR2):c.1293A>G (p.Glu431=) rs774384466 0.00001
NM_003242.6(TGFBR2):c.1314T>C (p.Asn438=) rs772490613 0.00001
NM_003242.6(TGFBR2):c.1482T>C (p.Asp494=) rs757583727 0.00001
NM_003242.6(TGFBR2):c.1525-6C>G rs748388518 0.00001
NM_003242.6(TGFBR2):c.1644G>A (p.Ser548=) rs781309781 0.00001
NM_003242.6(TGFBR2):c.1656C>T (p.Cys552=) rs756434427 0.00001
NM_003242.6(TGFBR2):c.1659G>A (p.Ser553=) rs771926828 0.00001
NM_003242.6(TGFBR2):c.1668G>A (p.Lys556=) rs779923854 0.00001
NM_003242.6(TGFBR2):c.486A>G (p.Leu162=) rs761927882 0.00001
NM_003242.6(TGFBR2):c.594T>C (p.Ser198=) rs886038945 0.00001
NM_003242.6(TGFBR2):c.621G>A (p.Arg207=) rs886058304 0.00001
NM_003242.6(TGFBR2):c.666T>C (p.Asp222=) rs755404252 0.00001
NM_003242.6(TGFBR2):c.6T>C (p.Gly2=) rs758864131 0.00001
NM_003242.6(TGFBR2):c.705C>T (p.Ile235=) rs1699345595 0.00001
NM_003242.6(TGFBR2):c.75A>G (p.Pro25=) rs572435149 0.00001
NM_003242.6(TGFBR2):c.933G>A (p.Glu311=) rs754003334 0.00001
NM_001032283.3(TMPO):c.105C>T (p.Asp35=)
NM_001032283.3(TMPO):c.108G>C (p.Val36=)
NM_001032283.3(TMPO):c.111C>T (p.Tyr37=) rs1299226116
NM_001032283.3(TMPO):c.114C>A (p.Val38=)
NM_001032283.3(TMPO):c.150G>A (p.Arg50=)
NM_001032283.3(TMPO):c.186C>T (p.Pro62=)
NM_001032283.3(TMPO):c.231C>T (p.Leu77=)
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.267A>T (p.Ala89=) rs1055056946
NM_001032283.3(TMPO):c.273C>A (p.Val91=)
NM_001032283.3(TMPO):c.279+14dup rs749108666
NM_001032283.3(TMPO):c.279+16C>T rs1010758415
NM_001032283.3(TMPO):c.279+17G>A
NM_001032283.3(TMPO):c.280-13A>G
NM_001032283.3(TMPO):c.280-13A>T
NM_001032283.3(TMPO):c.280-18A>G
NM_001032283.3(TMPO):c.280-4A>G
NM_001032283.3(TMPO):c.306C>T (p.Pro102=)
NM_001032283.3(TMPO):c.357T>G (p.Asp119Glu) rs765524061
NM_001032283.3(TMPO):c.36A>G (p.Thr12=)
NM_001032283.3(TMPO):c.399T>C (p.Pro133=)
NM_001032283.3(TMPO):c.407-4C>T
NM_001032283.3(TMPO):c.423A>G (p.Leu141=)
NM_001032283.3(TMPO):c.429G>A (p.Glu143=)
NM_001032283.3(TMPO):c.441G>A (p.Leu147=) rs2121195450
NM_001032283.3(TMPO):c.462A>G (p.Thr154=) rs2121195654
NM_001032283.3(TMPO):c.471A>G (p.Arg157=)
NM_001032283.3(TMPO):c.48G>A (p.Leu16=) rs2121092959
NM_001032283.3(TMPO):c.519G>A (p.Arg173=)
NM_001032283.3(TMPO):c.528A>G (p.Gly176=)
NM_001032283.3(TMPO):c.565+1007A>G
NM_001032283.3(TMPO):c.565+1106C>A rs757659026
NM_001032283.3(TMPO):c.565+1127C>G rs777779709
NM_001032283.3(TMPO):c.565+1127C>T rs777779709
NM_001032283.3(TMPO):c.565+1154T>C
NM_001032283.3(TMPO):c.565+1199C>T rs2121203040
NM_001032283.3(TMPO):c.565+1220G>A
NM_001032283.3(TMPO):c.565+1319C>T rs780889526
NM_001032283.3(TMPO):c.565+1334C>T
NM_001032283.3(TMPO):c.565+1382C>T rs2121204053
NM_001032283.3(TMPO):c.565+1448G>A rs1877328100
NM_001032283.3(TMPO):c.565+1532G>T
NM_001032283.3(TMPO):c.565+1613C>T
NM_001032283.3(TMPO):c.565+1637A>G
NM_001032283.3(TMPO):c.565+1688G>T rs577869374
NM_001032283.3(TMPO):c.565+1781C>T
NM_001032283.3(TMPO):c.565+1808T>C
NM_001032283.3(TMPO):c.565+1814C>G
NM_001032283.3(TMPO):c.565+1817T>C
NM_001032283.3(TMPO):c.565+1826C>T
NM_001032283.3(TMPO):c.565+1880C>A rs1351997207
NM_001032283.3(TMPO):c.565+1956C>T
NM_001032283.3(TMPO):c.565+1958G>A
NM_001032283.3(TMPO):c.565+1964A>C
NM_001032283.3(TMPO):c.565+19T>C
NM_001032283.3(TMPO):c.565+2099T>C
NM_001032283.3(TMPO):c.565+2135A>G rs1284474609
NM_001032283.3(TMPO):c.565+2180C>T
NM_001032283.3(TMPO):c.565+2192G>A
NM_001032283.3(TMPO):c.565+2210T>C
NM_001032283.3(TMPO):c.565+2219T>G
NM_001032283.3(TMPO):c.565+2222A>C
NM_001032283.3(TMPO):c.565+2261G>A rs373227285
NM_001032283.3(TMPO):c.565+2261G>C
NM_001032283.3(TMPO):c.565+2261G>T rs373227285
NM_001032283.3(TMPO):c.565+2271C>T
NM_001032283.3(TMPO):c.565+2297A>G
NM_001032283.3(TMPO):c.565+2300T>C
NM_001032283.3(TMPO):c.565+2315A>G
NM_001032283.3(TMPO):c.565+2339C>G rs749772850
NM_001032283.3(TMPO):c.565+2357C>T
NM_001032283.3(TMPO):c.565+2402T>C rs1592947011
NM_001032283.3(TMPO):c.565+2421C>T rs2121211142
NM_001032283.3(TMPO):c.565+2426T>C rs1877426910
NM_001032283.3(TMPO):c.565+9T>G
NM_001032283.3(TMPO):c.63C>A (p.Val21=)
NM_001032283.3(TMPO):c.66C>T (p.Ala22=) rs1875748424
NM_003242.6(TGFBR2):c.1071G>A (p.Gly357=) rs1575158015
NM_003242.6(TGFBR2):c.1137C>T (p.Asp379=) rs1411787654
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003242.6(TGFBR2):c.1170C>T (p.Asp390=) rs1699359494
NM_003242.6(TGFBR2):c.1176C>G (p.Thr392=)
NM_003242.6(TGFBR2):c.1179C>T (p.Cys393=) rs2125436765
NM_003242.6(TGFBR2):c.1182C>T (p.Cys394=)
NM_003242.6(TGFBR2):c.1197G>A (p.Gly399=)
NM_003242.6(TGFBR2):c.1203C>T (p.Ser401=)
NM_003242.6(TGFBR2):c.1299G>A (p.Arg433=)
NM_003242.6(TGFBR2):c.1335C>G (p.Thr445=)
NM_003242.6(TGFBR2):c.1335C>T (p.Thr445=) rs546058122
NM_003242.6(TGFBR2):c.1401A>G (p.Val467=) rs2125451595
NM_003242.6(TGFBR2):c.1416T>C (p.Pro472=) rs2125451658
NM_003242.6(TGFBR2):c.147A>G (p.Gln49=)
NM_003242.6(TGFBR2):c.1542T>C (p.Cys514=) rs1575166645
NM_003242.6(TGFBR2):c.1566C>T (p.Asp522=)
NM_003242.6(TGFBR2):c.1687C>T (p.Leu563=)
NM_003242.6(TGFBR2):c.264-7A>G rs1001983657
NM_003242.6(TGFBR2):c.33G>C (p.Pro11=)
NM_003242.6(TGFBR2):c.357A>G (p.Pro119=)
NM_003242.6(TGFBR2):c.378A>G (p.Lys126=) rs2125410377
NM_003242.6(TGFBR2):c.387T>G (p.Pro129=)
NM_003242.6(TGFBR2):c.455-9C>T rs1699338104
NM_003242.6(TGFBR2):c.462C>T (p.Asn154=)
NM_003242.6(TGFBR2):c.464C>T (p.Thr155Ile) rs727504406
NM_003242.6(TGFBR2):c.468C>T (p.Ser156=)
NM_003242.6(TGFBR2):c.531A>G (p.Gly177=)
NM_003242.6(TGFBR2):c.550A>G (p.Ile184Val) rs1371905176
NM_003242.6(TGFBR2):c.555C>T (p.Ile185=)
NM_003242.6(TGFBR2):c.627C>A (p.Leu209=)
NM_003242.6(TGFBR2):c.636C>T (p.Phe212=)
NM_003242.6(TGFBR2):c.640G>T (p.Glu214Ter)
NM_003242.6(TGFBR2):c.723G>C (p.Leu241=)
NM_003242.6(TGFBR2):c.744C>G (p.Thr248=)
NM_003242.6(TGFBR2):c.756A>G (p.Lys252=) rs1160016010
NM_003242.6(TGFBR2):c.78G>A (p.Pro26=) rs753781287
NM_003242.6(TGFBR2):c.834C>T (p.Ile278=)
NM_003242.6(TGFBR2):c.897G>A (p.Leu299=) rs1699350239
NM_003242.6(TGFBR2):c.915C>G (p.Leu305=) rs146030104
NM_003242.6(TGFBR2):c.948G>A (p.Glu316=) rs1699352075
NM_003242.6(TGFBR2):c.95-6C>T
NM_003242.6(TGFBR2):c.954G>A (p.Gly318=)
NM_003242.6(TGFBR2):c.978C>T (p.Ala326=) rs1575157891
NM_003242.6(TGFBR2):c.993C>T (p.Gly331=) rs1443786366

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