ClinVar Miner

List of variants in gene TCTN1 reported as likely benign for Meckel syndrome

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 140
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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=)

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