ClinVar Miner

List of variants in gene TCTN1 reported as uncertain significance for Meckel syndrome

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 140
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001082538.3(TCTN1):c.1291G>C (p.Val431Leu) rs188817098 0.00071
NM_001082538.3(TCTN1):c.934G>A (p.Val312Ile) rs118057448 0.00051
NM_001082538.3(TCTN1):c.1658C>T (p.Thr553Met) rs182406601 0.00026
NM_001082538.3(TCTN1):c.1304A>G (p.Tyr435Cys) rs201007321 0.00024
NM_001082538.3(TCTN1):c.890C>T (p.Thr297Met) rs200460700 0.00021
NM_001082538.3(TCTN1):c.1676C>T (p.Ala559Val) rs373723058 0.00019
NM_001082538.3(TCTN1):c.1060G>A (p.Val354Ile) rs374701683 0.00014
NM_001082538.3(TCTN1):c.14G>A (p.Gly5Asp) rs572300029 0.00014
NM_001082538.3(TCTN1):c.1531G>A (p.Ala511Thr) rs369125553 0.00013
NM_001082538.3(TCTN1):c.1015G>C (p.Val339Leu) rs201990420 0.00011
NM_001082538.3(TCTN1):c.1622C>T (p.Ser541Phe) rs752953090 0.00011
NM_001082538.3(TCTN1):c.607A>G (p.Thr203Ala) rs1483033032 0.00007
NM_001082538.3(TCTN1):c.1540A>G (p.Ile514Val) rs371539069 0.00006
NM_001082538.3(TCTN1):c.8C>T (p.Pro3Leu) rs772390489 0.00006
NM_001082538.3(TCTN1):c.901C>T (p.Arg301Trp) rs755328291 0.00006
NM_001082538.3(TCTN1):c.1739A>G (p.Asn580Ser) rs757300709 0.00005
NM_001082538.3(TCTN1):c.644C>A (p.Thr215Asn) rs545613207 0.00004
NM_001082538.3(TCTN1):c.1282C>T (p.Arg428Trp) rs572643772 0.00003
NM_001082538.3(TCTN1):c.1421T>C (p.Phe474Ser) rs368668920 0.00003
NM_001082538.3(TCTN1):c.1463T>C (p.Ile488Thr) rs1291891063 0.00003
NM_001082538.3(TCTN1):c.211G>A (p.Val71Ile) rs776696098 0.00003
NM_001082538.3(TCTN1):c.438T>G (p.Ile146Met) rs370390020 0.00003
NM_001082538.3(TCTN1):c.527A>G (p.Asp176Gly) rs771704189 0.00003
NM_001082538.3(TCTN1):c.1271T>C (p.Leu424Pro) rs751036661 0.00002
NM_001082538.3(TCTN1):c.574T>A (p.Tyr192Asn) rs370252911 0.00002
NM_001082538.3(TCTN1):c.823-3T>A rs757410579 0.00002
NM_001082538.3(TCTN1):c.865A>G (p.Ile289Val) rs1035223063 0.00002
NM_001082538.3(TCTN1):c.1034C>T (p.Ser345Leu) rs764428510 0.00001
NM_001082538.3(TCTN1):c.113C>G (p.Thr38Ser) rs1414721255 0.00001
NM_001082538.3(TCTN1):c.1150G>A (p.Val384Met) rs768050958 0.00001
NM_001082538.3(TCTN1):c.1217G>C (p.Arg406Thr) rs372139162 0.00001
NM_001082538.3(TCTN1):c.1309A>G (p.Met437Val) rs777277575 0.00001
NM_001082538.3(TCTN1):c.1349C>T (p.Pro450Leu) rs755076199 0.00001
NM_001082538.3(TCTN1):c.1441G>A (p.Asp481Asn) rs891438919 0.00001
NM_001082538.3(TCTN1):c.1522C>T (p.Leu508Phe) rs1016934113 0.00001
NM_001082538.3(TCTN1):c.1562A>T (p.Tyr521Phe) rs978264567 0.00001
NM_001082538.3(TCTN1):c.1627T>A (p.Phe543Ile) rs928189605 0.00001
NM_001082538.3(TCTN1):c.1636-3C>T rs1456445051 0.00001
NM_001082538.3(TCTN1):c.1646G>A (p.Gly549Glu) rs780673992 0.00001
NM_001082538.3(TCTN1):c.1663C>T (p.Leu555Phe) rs375896348 0.00001
NM_001082538.3(TCTN1):c.1679T>C (p.Val560Ala) rs765240282 0.00001
NM_001082538.3(TCTN1):c.169C>T (p.Pro57Ser) rs543518078 0.00001
NM_001082538.3(TCTN1):c.1773T>G (p.Phe591Leu) rs201198236 0.00001
NM_001082538.3(TCTN1):c.219C>G (p.Asp73Glu) rs748298895 0.00001
NM_001082538.3(TCTN1):c.232T>C (p.Cys78Arg) rs1565956183 0.00001
NM_001082538.3(TCTN1):c.233G>A (p.Cys78Tyr) rs760047850 0.00001
NM_001082538.3(TCTN1):c.286G>A (p.Asp96Asn) rs1048212721 0.00001
NM_001082538.3(TCTN1):c.341C>T (p.Thr114Met) rs768244592 0.00001
NM_001082538.3(TCTN1):c.346G>A (p.Asp116Asn) rs983420048 0.00001
NM_001082538.3(TCTN1):c.467C>T (p.Thr156Ile) rs369542737 0.00001
NM_001082538.3(TCTN1):c.666T>G (p.Phe222Leu) rs2066301569 0.00001
NM_001082538.3(TCTN1):c.671C>T (p.Ser224Leu) rs376544711 0.00001
NM_001082538.3(TCTN1):c.713C>T (p.Ala238Val) rs370816745 0.00001
NM_001082538.3(TCTN1):c.83C>T (p.Pro28Leu) rs1305265141 0.00001
NM_001082538.3(TCTN1):c.899G>A (p.Arg300Gln) rs746946452 0.00001
NM_001082538.3(TCTN1):c.902G>A (p.Arg301Gln) rs780877516 0.00001
NM_001082538.3(TCTN1):c.926C>T (p.Pro309Leu) rs1291603381 0.00001
NM_001082538.3(TCTN1):c.956T>G (p.Leu319Arg) rs762127242 0.00001
NM_001082538.3(TCTN1):c.1004_1013delinsCCTCACATACACAGCCTCACATACACAG (p.Asp335_Glu338delinsAlaSerHisThrGlnProHisIleHisArg)
NM_001082538.3(TCTN1):c.1009G>C (p.Gly337Arg) rs2136130583
NM_001082538.3(TCTN1):c.1030C>A (p.Leu344Ile) rs1056341678
NM_001082538.3(TCTN1):c.1033T>A (p.Ser345Thr) rs2066918404
NM_001082538.3(TCTN1):c.1039G>A (p.Val347Ile) rs199967338
NM_001082538.3(TCTN1):c.1045G>A (p.Gly349Arg)
NM_001082538.3(TCTN1):c.1079A>G (p.Gln360Arg) rs774343613
NM_001082538.3(TCTN1):c.1083G>C (p.Lys361Asn)
NM_001082538.3(TCTN1):c.1086T>G (p.Phe362Leu) rs2066921812
NM_001082538.3(TCTN1):c.1109A>G (p.Asn370Ser)
NM_001082538.3(TCTN1):c.114C>A (p.Thr38=)
NM_001082538.3(TCTN1):c.1219T>C (p.Tyr407His)
NM_001082538.3(TCTN1):c.121G>T (p.Ala41Ser)
NM_001082538.3(TCTN1):c.1222G>A (p.Gly408Arg)
NM_001082538.3(TCTN1):c.1235T>C (p.Ile412Thr) rs2136144284
NM_001082538.3(TCTN1):c.125T>C (p.Leu42Pro) rs1415245710
NM_001082538.3(TCTN1):c.1279G>A (p.Val427Ile) rs560599144
NM_001082538.3(TCTN1):c.1283G>A (p.Arg428Gln)
NM_001082538.3(TCTN1):c.1337C>G (p.Thr446Ser)
NM_001082538.3(TCTN1):c.1351T>G (p.Cys451Gly)
NM_001082538.3(TCTN1):c.1360G>T (p.Val454Leu) rs369759157
NM_001082538.3(TCTN1):c.1361T>C (p.Val454Ala)
NM_001082538.3(TCTN1):c.1380C>G (p.Ser460Arg) rs2136171528
NM_001082538.3(TCTN1):c.1415C>A (p.Ala472Asp)
NM_001082538.3(TCTN1):c.1417C>T (p.Pro473Ser) rs757074241
NM_001082538.3(TCTN1):c.146C>G (p.Pro49Arg) rs571241015
NM_001082538.3(TCTN1):c.146C>T (p.Pro49Leu)
NM_001082538.3(TCTN1):c.1494+21del
NM_001082538.3(TCTN1):c.1517G>A (p.Cys506Tyr) rs2136195685
NM_001082538.3(TCTN1):c.151A>G (p.Thr51Ala)
NM_001082538.3(TCTN1):c.156G>T (p.Arg52Ser)
NM_001082538.3(TCTN1):c.1595T>A (p.Val532Asp)
NM_001082538.3(TCTN1):c.1600G>A (p.Val534Ile)
NM_001082538.3(TCTN1):c.1639A>G (p.Asn547Asp)
NM_001082538.3(TCTN1):c.163_164delinsAA (p.Gly55Lys)
NM_001082538.3(TCTN1):c.1641C>G (p.Asn547Lys)
NM_001082538.3(TCTN1):c.1666_1668dup (p.Ile556dup) rs773918437
NM_001082538.3(TCTN1):c.1676C>A (p.Ala559Glu) rs373723058
NM_001082538.3(TCTN1):c.1677G>A (p.Ala559=)
NM_001082538.3(TCTN1):c.167C>T (p.Thr56Ile) rs2135829550
NM_001082538.3(TCTN1):c.1685T>C (p.Phe562Ser) rs1277761197
NM_001082538.3(TCTN1):c.1687G>T (p.Val563Leu) rs1593399731
NM_001082538.3(TCTN1):c.1691A>C (p.Asp564Ala)
NM_001082538.3(TCTN1):c.1705G>A (p.Ala569Thr)
NM_001082538.3(TCTN1):c.1722A>C (p.Arg574Ser) rs560372787
NM_001082538.3(TCTN1):c.1759TTC[2] (p.Phe589del)
NM_001082538.3(TCTN1):c.1759TTC[4] (p.Phe589dup) rs1482826487
NM_001082538.3(TCTN1):c.1759_1760inv (p.Phe587Asn)
NM_001082538.3(TCTN1):c.1769C>T (p.Pro590Leu)
NM_001082538.3(TCTN1):c.19C>T (p.Pro7Ser) rs2135826823
NM_001082538.3(TCTN1):c.202C>G (p.Pro68Ala)
NM_001082538.3(TCTN1):c.205A>G (p.Thr69Ala)
NM_001082538.3(TCTN1):c.233G>C (p.Cys78Ser) rs760047850
NM_001082538.3(TCTN1):c.235G>T (p.Val79Phe)
NM_001082538.3(TCTN1):c.251C>T (p.Pro84Leu)
NM_001082538.3(TCTN1):c.284C>T (p.Pro95Leu)
NM_001082538.3(TCTN1):c.305T>G (p.Phe102Cys) rs1593225303
NM_001082538.3(TCTN1):c.316T>C (p.Ser106Pro)
NM_001082538.3(TCTN1):c.332C>T (p.Pro111Leu)
NM_001082538.3(TCTN1):c.334G>C (p.Val112Leu) rs1461650187
NM_001082538.3(TCTN1):c.347A>G (p.Asp116Gly)
NM_001082538.3(TCTN1):c.37C>T (p.Leu13Phe) rs762387258
NM_001082538.3(TCTN1):c.395C>T (p.Thr132Ile)
NM_001082538.3(TCTN1):c.401A>G (p.Asn134Ser)
NM_001082538.3(TCTN1):c.425TTG[1] (p.Val143del)
NM_001082538.3(TCTN1):c.469A>G (p.Asn157Asp) rs1338880412
NM_001082538.3(TCTN1):c.496A>C (p.Asn166His)
NM_001082538.3(TCTN1):c.499C>A (p.Pro167Thr) rs2136005301
NM_001082538.3(TCTN1):c.512A>G (p.Asp171Gly)
NM_001082538.3(TCTN1):c.560T>C (p.Leu187Ser) rs2066031755
NM_001082538.3(TCTN1):c.586A>G (p.Thr196Ala)
NM_001082538.3(TCTN1):c.604C>T (p.Pro202Ser)
NM_001082538.3(TCTN1):c.614C>G (p.Ala205Gly)
NM_001082538.3(TCTN1):c.667C>T (p.Pro223Ser) rs770297289
NM_001082538.3(TCTN1):c.720G>A (p.Leu240=) rs2066445334
NM_001082538.3(TCTN1):c.767G>T (p.Cys256Phe)
NM_001082538.3(TCTN1):c.782C>G (p.Ala261Gly) rs2136070459
NM_001082538.3(TCTN1):c.802A>G (p.Ser268Gly) rs771495390
NM_001082538.3(TCTN1):c.809C>A (p.Pro270Gln)
NM_001082538.3(TCTN1):c.843+4A>G
NM_001082538.3(TCTN1):c.844G>A (p.Val282Ile)
NM_001082538.3(TCTN1):c.899G>C (p.Arg300Pro)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.