List of variants in gene TCTN1 reported as likely benign 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

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001082538.3(TCTN1):c.1379G>C (p.Ser460Thr)	rs190390987	0.00245
NM_001082538.3(TCTN1):c.1387T>C (p.Trp463Arg)	rs114568905	0.00194
NM_001082538.3(TCTN1):c.1471A>T (p.Ile491Phe)	rs201894544	0.00146
NM_001082538.3(TCTN1):c.1410C>T (p.Tyr470=)	rs370336923	0.00108
NM_001082538.3(TCTN1):c.298G>A (p.Val100Met)	rs145478892	0.00073
NM_001082538.3(TCTN1):c.960C>T (p.Cys320=)	rs145970332	0.00051
NM_001082538.3(TCTN1):c.1563C>T (p.Tyr521=)	rs368907353	0.00048
NM_001082538.3(TCTN1):c.1038C>T (p.Phe346=)	rs377300877	0.00031
NM_001082538.3(TCTN1):c.1635+11C>T	rs369922174	0.00027
NM_001082538.3(TCTN1):c.570A>G (p.Glu190=)	rs199584658	0.00024
NM_001082538.3(TCTN1):c.713-9G>T	rs201293727	0.00024
NM_001082538.3(TCTN1):c.1383G>A (p.Leu461=)	rs377488330	0.00023
NM_001082538.3(TCTN1):c.1359C>T (p.Leu453=)	rs200935044	0.00016
NM_001082538.3(TCTN1):c.1671C>A (p.Ser557=)	rs200067409	0.00014
NM_001082538.3(TCTN1):c.987C>T (p.Tyr329=)	rs371066430	0.00013
NM_001082538.3(TCTN1):c.823-6A>G	rs377230085	0.00012
NM_001082538.3(TCTN1):c.264C>T (p.Asp88=)	rs373685803	0.00010
NM_001082538.3(TCTN1):c.162C>T (p.Pro54=)	rs751912758	0.00006
NM_001082538.3(TCTN1):c.672G>A (p.Ser224=)	rs763386832	0.00006
NM_001082538.3(TCTN1):c.939C>T (p.Asn313=)	rs375034561	0.00006
NM_001082538.3(TCTN1):c.285C>T (p.Pro95=)	rs199664343	0.00005
NM_001082538.3(TCTN1):c.940G>A (p.Ala314Thr)	rs199529768	0.00005
NM_001082538.3(TCTN1):c.1095T>C (p.His365=)	rs767963074	0.00004
NM_001082538.3(TCTN1):c.473-20_473-19del	rs762957362	0.00004
NM_001082538.3(TCTN1):c.822+18G>C	rs367638462	0.00004
NM_001082538.3(TCTN1):c.864C>T (p.Ser288=)	rs759380913	0.00004
NM_001082538.3(TCTN1):c.927G>A (p.Pro309=)	rs777373658	0.00004
NM_001082538.3(TCTN1):c.1059C>T (p.Ser353=)	rs370906446	0.00003
NM_001082538.3(TCTN1):c.1350G>A (p.Pro450=)	rs781366326	0.00003
NM_001082538.3(TCTN1):c.1494+20G>A	rs1024500142	0.00003
NM_001082538.3(TCTN1):c.21G>T (p.Pro7=)	rs760813360	0.00003
NM_001082538.3(TCTN1):c.559T>C (p.Leu187=)	rs376935369	0.00003
NM_001082538.3(TCTN1):c.612T>A (p.Ala204=)	rs983405128	0.00003
NM_001082538.3(TCTN1):c.810G>A (p.Pro270=)	rs771664440	0.00003
NM_001082538.3(TCTN1):c.817C>T (p.Leu273=)	rs775207770	0.00003
NM_001082538.3(TCTN1):c.1149C>T (p.Val383=)	rs759588884	0.00002
NM_001082538.3(TCTN1):c.1167T>A (p.Ala389=)	rs754192411	0.00002
NM_001082538.3(TCTN1):c.1740T>C (p.Asn580=)	rs376626018	0.00002
NM_001082538.3(TCTN1):c.237C>G (p.Val79=)	rs374598052	0.00002
NM_001082538.3(TCTN1):c.597G>T (p.Leu199=)	rs950880140	0.00002
NM_001082538.3(TCTN1):c.621T>C (p.Tyr207=)	rs757534239	0.00002
NM_001082538.3(TCTN1):c.954C>T (p.Ser318=)	rs372535670	0.00002
NM_001082538.3(TCTN1):c.1209C>T (p.Thr403=)	rs1195048348	0.00001
NM_001082538.3(TCTN1):c.1287C>T (p.Thr429=)	rs746097128	0.00001
NM_001082538.3(TCTN1):c.1332-17C>A	rs763909645	0.00001
NM_001082538.3(TCTN1):c.1452C>T (p.Asp484=)	rs2067208566	0.00001
NM_001082538.3(TCTN1):c.1467C>T (p.His489=)	rs748187759	0.00001
NM_001082538.3(TCTN1):c.1636-5T>C	rs1250840241	0.00001
NM_001082538.3(TCTN1):c.1656G>A (p.Arg552=)	rs1248295755	0.00001
NM_001082538.3(TCTN1):c.1659G>A (p.Thr553=)	rs777278093	0.00001
NM_001082538.3(TCTN1):c.1749G>T (p.Leu583=)	rs1228988444	0.00001
NM_001082538.3(TCTN1):c.297C>T (p.Ser99=)	rs199654159	0.00001
NM_001082538.3(TCTN1):c.473-9A>T	rs766470328	0.00001
NM_001082538.3(TCTN1):c.54C>T (p.Ala18=)	rs758668268	0.00001
NM_001082538.3(TCTN1):c.57C>T (p.Ser19=)	rs779892252	0.00001
NM_001082538.3(TCTN1):c.654G>A (p.Ser218=)	rs776715588	0.00001
NM_001082538.3(TCTN1):c.705C>T (p.Asn235=)	rs752181429	0.00001
NM_001082538.3(TCTN1):c.714G>A (p.Ala238=)	rs200574241	0.00001
NM_001082538.3(TCTN1):c.823-4C>G	rs754017886	0.00001
NM_001082538.3(TCTN1):c.846C>G (p.Val282=)	rs368536784	0.00001
NM_001082538.3(TCTN1):c.858T>G (p.Val286=)	rs770733945	0.00001
NM_001082538.3(TCTN1):c.933C>T (p.Leu311=)	rs748696458	0.00001
NM_001082538.3(TCTN1):c.978+10G>A	rs557580380	0.00001
NM_001082538.3(TCTN1):c.1050A>G (p.Thr350=)
NM_001082538.3(TCTN1):c.1104+14A>G
NM_001082538.3(TCTN1):c.1105-14G>C
NM_001082538.3(TCTN1):c.1119A>T (p.Pro373=)	rs2136135794
NM_001082538.3(TCTN1):c.1125T>C (p.Pro375=)
NM_001082538.3(TCTN1):c.1176C>T (p.Phe392=)
NM_001082538.3(TCTN1):c.1191-17C>G
NM_001082538.3(TCTN1):c.1209C>A (p.Thr403=)
NM_001082538.3(TCTN1):c.1233T>A (p.Thr411=)
NM_001082538.3(TCTN1):c.1327C>T (p.Leu443=)
NM_001082538.3(TCTN1):c.1331+15T>C
NM_001082538.3(TCTN1):c.1332-17_1332-15del	rs1346752512
NM_001082538.3(TCTN1):c.1386G>A (p.Leu462=)
NM_001082538.3(TCTN1):c.1386G>T (p.Leu462=)
NM_001082538.3(TCTN1):c.1425A>C (p.Gly475=)
NM_001082538.3(TCTN1):c.1434G>A (p.Gln478=)	rs2136172368
NM_001082538.3(TCTN1):c.1479G>A (p.Gln493=)
NM_001082538.3(TCTN1):c.1494+10A>G
NM_001082538.3(TCTN1):c.1494+9G>A
NM_001082538.3(TCTN1):c.1495-15C>G
NM_001082538.3(TCTN1):c.1503T>G (p.Val501=)	rs2067384815
NM_001082538.3(TCTN1):c.1524C>T (p.Leu508=)
NM_001082538.3(TCTN1):c.1599T>C (p.Asn533=)	rs2136196716
NM_001082538.3(TCTN1):c.159C>T (p.Pro53=)
NM_001082538.3(TCTN1):c.1623C>T (p.Ser541=)	rs2067393633
NM_001082538.3(TCTN1):c.1626C>T (p.Ser542=)	rs2136196962
NM_001082538.3(TCTN1):c.1636-13C>G	rs2136202456
NM_001082538.3(TCTN1):c.1636-16T>G
NM_001082538.3(TCTN1):c.1636-20C>G
NM_001082538.3(TCTN1):c.1671C>T (p.Ser557=)	rs200067409
NM_001082538.3(TCTN1):c.1731A>G (p.Pro577=)
NM_001082538.3(TCTN1):c.1749G>A (p.Leu583=)
NM_001082538.3(TCTN1):c.1758C>T (p.Asn586=)
NM_001082538.3(TCTN1):c.186C>G (p.Pro62=)
NM_001082538.3(TCTN1):c.18C>G (p.Leu6=)
NM_001082538.3(TCTN1):c.198C>T (p.Pro66=)	rs745624307
NM_001082538.3(TCTN1):c.216G>C (p.Thr72=)
NM_001082538.3(TCTN1):c.221-12T>C	rs2065291069
NM_001082538.3(TCTN1):c.221-8_221-7del
NM_001082538.3(TCTN1):c.249C>T (p.Ser83=)	rs2135904897
NM_001082538.3(TCTN1):c.24G>A (p.Pro8=)	rs2135826966
NM_001082538.3(TCTN1):c.341+10C>T	rs201488724
NM_001082538.3(TCTN1):c.341+20A>G
NM_001082538.3(TCTN1):c.341+20A>T
NM_001082538.3(TCTN1):c.342-10T>A
NM_001082538.3(TCTN1):c.342-17del
NM_001082538.3(TCTN1):c.342-19T>C
NM_001082538.3(TCTN1):c.363T>C (p.Ser121=)
NM_001082538.3(TCTN1):c.396A>C (p.Thr132=)
NM_001082538.3(TCTN1):c.39C>G (p.Leu13=)
NM_001082538.3(TCTN1):c.402C>T (p.Asn134=)
NM_001082538.3(TCTN1):c.472+14A>G
NM_001082538.3(TCTN1):c.472+14_472+15del
NM_001082538.3(TCTN1):c.472+15T>C
NM_001082538.3(TCTN1):c.472+18A>G
NM_001082538.3(TCTN1):c.532T>C (p.Leu178=)
NM_001082538.3(TCTN1):c.585C>T (p.Phe195=)	rs774402021
NM_001082538.3(TCTN1):c.624+12C>A
NM_001082538.3(TCTN1):c.625-16G>A	rs1193239700
NM_001082538.3(TCTN1):c.625-16G>C
NM_001082538.3(TCTN1):c.630G>A (p.Gly210=)
NM_001082538.3(TCTN1):c.669T>C (p.Pro223=)
NM_001082538.3(TCTN1):c.699TAA[1] (p.Asn235del)	rs797046038
NM_001082538.3(TCTN1):c.712+19T>G	rs1407011800
NM_001082538.3(TCTN1):c.712+8del
NM_001082538.3(TCTN1):c.823-13T>C
NM_001082538.3(TCTN1):c.823-17G>C
NM_001082538.3(TCTN1):c.843+8TATT[2]	rs775925984
NM_001082538.3(TCTN1):c.844-10C>T	rs1565998186
NM_001082538.3(TCTN1):c.84G>A (p.Pro28=)	rs777519512
NM_001082538.3(TCTN1):c.84G>C (p.Pro28=)
NM_001082538.3(TCTN1):c.915T>C (p.Asp305=)
NM_001082538.3(TCTN1):c.933C>A (p.Leu311=)
NM_001082538.3(TCTN1):c.942T>C (p.Ala314=)
NM_001082538.3(TCTN1):c.978+9C>T	rs1193894596
NM_001082538.3(TCTN1):c.979-8G>A	rs1182390950
NM_001082538.3(TCTN1):c.993C>G (p.Leu331=)

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.