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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 140

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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.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.211G>A (p.Val71Ile)	rs776696098	0.00005
NM_001082538.3(TCTN1):c.1540A>G (p.Ile514Val)	rs371539069	0.00004
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.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)

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