ClinVar Miner

List of variants in gene TCTN2 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: 260
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HGVS dbSNP gnomAD frequency
NM_024809.5(TCTN2):c.1612+12C>T rs117614122 0.01410
NM_024809.5(TCTN2):c.599G>A (p.Arg200Gln) rs79251326 0.00978
NM_024809.5(TCTN2):c.810C>T (p.Asp270=) rs144567556 0.00376
NM_024809.5(TCTN2):c.720C>G (p.Pro240=) rs149430216 0.00236
NM_024809.5(TCTN2):c.615C>T (p.Gly205=) rs147485641 0.00143
NM_024809.5(TCTN2):c.668C>T (p.Thr223Met) rs145374149 0.00124
NM_024809.5(TCTN2):c.*258G>C rs540710300 0.00109
NM_024809.5(TCTN2):c.776A>G (p.Gln259Arg) rs151318349 0.00070
NM_024809.5(TCTN2):c.888G>A (p.Pro296=) rs116845100 0.00068
NM_024809.5(TCTN2):c.635A>G (p.Asn212Ser) rs139927033 0.00046
NM_024809.5(TCTN2):c.571T>G (p.Ser191Ala) rs146698907 0.00039
NM_024809.5(TCTN2):c.*477G>A rs147565143 0.00038
NM_024809.5(TCTN2):c.500C>T (p.Pro167Leu) rs201140519 0.00022
NM_024809.5(TCTN2):c.202A>G (p.Ile68Val) rs137939978 0.00021
NM_024809.5(TCTN2):c.1756G>A (p.Gly586Ser) rs199543783 0.00020
NM_024809.5(TCTN2):c.1015A>G (p.Lys339Glu) rs563272016 0.00016
NM_024809.5(TCTN2):c.316T>G (p.Ser106Ala) rs148032415 0.00016
NM_024809.5(TCTN2):c.1234+5C>G rs201382614 0.00011
NM_024809.5(TCTN2):c.588G>A (p.Thr196=) rs201545344 0.00011
NM_024809.5(TCTN2):c.1699C>T (p.Arg567Cys) rs369121651 0.00009
NM_024809.5(TCTN2):c.1712C>T (p.Ser571Leu) rs372687837 0.00009
NM_024809.5(TCTN2):c.1723G>A (p.Ala575Thr) rs202157566 0.00009
NM_024809.5(TCTN2):c.631G>A (p.Val211Ile) rs544183268 0.00009
NM_024809.5(TCTN2):c.1552G>A (p.Val518Ile) rs147469128 0.00008
NM_024809.5(TCTN2):c.564+3A>C rs761089886 0.00008
NM_024809.5(TCTN2):c.1150C>T (p.His384Tyr) rs372235872 0.00006
NM_024809.5(TCTN2):c.1662C>T (p.Asn554=) rs553095875 0.00006
NM_024809.5(TCTN2):c.1724C>T (p.Ala575Val) rs763649240 0.00006
NM_024809.5(TCTN2):c.598C>T (p.Arg200Trp) rs371559095 0.00006
NM_024809.5(TCTN2):c.76G>T (p.Asp26Tyr) rs147746146 0.00006
NM_024809.5(TCTN2):c.910T>C (p.Cys304Arg) rs765523709 0.00006
NM_024809.5(TCTN2):c.259C>T (p.Pro87Ser) rs138562955 0.00005
NM_024809.5(TCTN2):c.267+3A>G rs748772785 0.00005
NM_024809.5(TCTN2):c.82+11C>T rs377654309 0.00005
NM_024809.5(TCTN2):c.*146C>T rs1046414186 0.00004
NM_024809.5(TCTN2):c.*587C>T rs548909798 0.00004
NM_024809.5(TCTN2):c.1055T>A (p.Ile352Asn) rs762326056 0.00004
NM_024809.5(TCTN2):c.1329G>A (p.Lys443=) rs543166165 0.00004
NM_024809.5(TCTN2):c.1337G>A (p.Arg446Gln) rs781699024 0.00004
NM_024809.5(TCTN2):c.1402G>A (p.Gly468Ser) rs148262537 0.00004
NM_024809.5(TCTN2):c.1474G>T (p.Val492Phe) rs1449279317 0.00004
NM_024809.5(TCTN2):c.1848C>T (p.Ser616=) rs201834126 0.00004
NM_024809.5(TCTN2):c.2066G>C (p.Trp689Ser) rs771335558 0.00004
NM_024809.5(TCTN2):c.577A>C (p.Asn193His) rs370944870 0.00004
NM_024809.5(TCTN2):c.979T>C (p.Tyr327His) rs545101214 0.00004
NM_024809.5(TCTN2):c.1990C>G (p.Leu664Val) rs554299771 0.00003
NM_024809.5(TCTN2):c.271G>T (p.Val91Leu) rs371662397 0.00003
NM_024809.5(TCTN2):c.325G>A (p.Glu109Lys) rs773010019 0.00003
NM_024809.5(TCTN2):c.412C>T (p.Leu138Phe) rs372053991 0.00003
NM_024809.5(TCTN2):c.449C>G (p.Thr150Ser) rs759741387 0.00003
NM_024809.5(TCTN2):c.679G>C (p.Gly227Arg) rs1051821648 0.00003
NM_024809.5(TCTN2):c.781T>C (p.Ser261Pro) rs140814969 0.00003
NM_024809.5(TCTN2):c.1612+3A>G rs918049258 0.00002
NM_024809.5(TCTN2):c.1612C>T (p.Arg538Cys) rs561214391 0.00002
NM_024809.5(TCTN2):c.1813G>A (p.Glu605Lys) rs768079186 0.00002
NM_024809.5(TCTN2):c.1818C>G (p.His606Gln) rs778418417 0.00002
NM_024809.5(TCTN2):c.1967G>C (p.Trp656Ser) rs200159224 0.00002
NM_024809.5(TCTN2):c.289A>G (p.Arg97Gly) rs1226080375 0.00002
NM_024809.5(TCTN2):c.305T>C (p.Leu102Pro) rs779547974 0.00002
NM_024809.5(TCTN2):c.349C>T (p.Pro117Ser) rs148783076 0.00002
NM_024809.5(TCTN2):c.523T>G (p.Leu175Val) rs768824874 0.00002
NM_024809.5(TCTN2):c.548G>A (p.Arg183His) rs369164141 0.00002
NM_024809.5(TCTN2):c.*559C>T rs1427290366 0.00001
NM_024809.5(TCTN2):c.-15C>T rs575728856 0.00001
NM_024809.5(TCTN2):c.1060G>A (p.Glu354Lys) rs953263200 0.00001
NM_024809.5(TCTN2):c.1117G>A (p.Gly373Arg) rs187433682 0.00001
NM_024809.5(TCTN2):c.113G>A (p.Gly38Asp) rs765101825 0.00001
NM_024809.5(TCTN2):c.1180A>T (p.Ile394Phe) rs774166162 0.00001
NM_024809.5(TCTN2):c.1236G>T (p.Gly412=) rs376630400 0.00001
NM_024809.5(TCTN2):c.1321C>T (p.Leu441Phe) rs752861868 0.00001
NM_024809.5(TCTN2):c.1370C>T (p.Thr457Met) rs202078439 0.00001
NM_024809.5(TCTN2):c.1393+15T>C rs541103051 0.00001
NM_024809.5(TCTN2):c.1394-6T>C rs774357206 0.00001
NM_024809.5(TCTN2):c.1430C>T (p.Pro477Leu) rs749989620 0.00001
NM_024809.5(TCTN2):c.1462T>A (p.Cys488Ser) rs765771036 0.00001
NM_024809.5(TCTN2):c.1477G>A (p.Gly493Arg) rs375717971 0.00001
NM_024809.5(TCTN2):c.1651A>G (p.Ser551Gly) rs774515451 0.00001
NM_024809.5(TCTN2):c.1663G>A (p.Gly555Ser) rs776273224 0.00001
NM_024809.5(TCTN2):c.1700G>A (p.Arg567His) rs780065531 0.00001
NM_024809.5(TCTN2):c.17C>T (p.Pro6Leu) rs1362649464 0.00001
NM_024809.5(TCTN2):c.1829T>C (p.Leu610Pro) rs554338311 0.00001
NM_024809.5(TCTN2):c.1849G>A (p.Val617Ile) rs376095561 0.00001
NM_024809.5(TCTN2):c.184G>C (p.Glu62Gln) rs774994149 0.00001
NM_024809.5(TCTN2):c.185A>C (p.Glu62Ala) rs376100033 0.00001
NM_024809.5(TCTN2):c.1872A>G (p.Ala624=) rs765238420 0.00001
NM_024809.5(TCTN2):c.1966T>C (p.Trp656Arg) rs756649431 0.00001
NM_024809.5(TCTN2):c.2087A>G (p.Tyr696Cys) rs188690113 0.00001
NM_024809.5(TCTN2):c.267+4A>C rs199924687 0.00001
NM_024809.5(TCTN2):c.301G>T (p.Gly101Cys) rs757725319 0.00001
NM_024809.5(TCTN2):c.335C>T (p.Ser112Phe) rs1955784094 0.00001
NM_024809.5(TCTN2):c.419A>G (p.Gln140Arg) rs375814526 0.00001
NM_024809.5(TCTN2):c.469G>A (p.Val157Met) rs1299672825 0.00001
NM_024809.5(TCTN2):c.490G>A (p.Val164Met) rs776834352 0.00001
NM_024809.5(TCTN2):c.622G>C (p.Gly208Arg) rs1026850270 0.00001
NM_024809.5(TCTN2):c.677G>A (p.Arg226His) rs774785140 0.00001
NM_024809.5(TCTN2):c.688G>A (p.Asp230Asn) rs987899301 0.00001
NM_024809.5(TCTN2):c.707G>A (p.Cys236Tyr) rs1267166699 0.00001
NM_024809.5(TCTN2):c.731C>T (p.Thr244Ile) rs760376471 0.00001
NM_024809.5(TCTN2):c.796T>C (p.Tyr266His) rs770325331 0.00001
NM_024809.5(TCTN2):c.887C>T (p.Pro296Leu) rs750458642 0.00001
NM_024809.5(TCTN2):c.89T>C (p.Ile30Thr) rs760245764 0.00001
NM_024809.5(TCTN2):c.908A>T (p.Gln303Leu) rs759754931 0.00001
NM_024809.5(TCTN2):c.914T>C (p.Met305Thr) rs1166016156 0.00001
NC_000012.11:g.(?_124158142)_(124163856_?)dup
NC_000012.11:g.(?_124177185)_(124177290_?)del
NC_000012.11:g.(?_124192131)_(124192260_?)del
NC_000012.12:g.(?_123671221)_(123707733_?)dup
NC_000012.12:g.(?_123692638)_(123707733_?)dup
NM_024809.5(TCTN2):c.*166T>G rs886049057
NM_024809.5(TCTN2):c.*290C>G rs886531596
NM_024809.5(TCTN2):c.*493T>A rs569489612
NM_024809.5(TCTN2):c.*562G>C rs772401980
NM_024809.5(TCTN2):c.*608T>C rs1956257782
NM_024809.5(TCTN2):c.*71T>G rs1956249051
NM_024809.5(TCTN2):c.100A>C (p.Ile34Leu)
NM_024809.5(TCTN2):c.1043C>T (p.Thr348Ile)
NM_024809.5(TCTN2):c.1045C>G (p.Pro349Ala) rs2135843071
NM_024809.5(TCTN2):c.1060G>C (p.Glu354Gln) rs953263200
NM_024809.5(TCTN2):c.1072G>A (p.Asp358Asn)
NM_024809.5(TCTN2):c.1074C>G (p.Asp358Glu)
NM_024809.5(TCTN2):c.1088T>C (p.Ile363Thr)
NM_024809.5(TCTN2):c.1099+19_1099+20inv
NM_024809.5(TCTN2):c.1099+6del rs2135843158
NM_024809.5(TCTN2):c.1123A>G (p.Thr375Ala) rs1256664879
NM_024809.5(TCTN2):c.112G>T (p.Gly38Cys) rs1955751143
NM_024809.5(TCTN2):c.1135G>T (p.Val379Leu)
NM_024809.5(TCTN2):c.1154A>G (p.Tyr385Cys)
NM_024809.5(TCTN2):c.1165T>C (p.Trp389Arg) rs200080239
NM_024809.5(TCTN2):c.1165T>G (p.Trp389Gly)
NM_024809.5(TCTN2):c.1167G>T (p.Trp389Cys) rs1956089092
NM_024809.5(TCTN2):c.1173_1178del (p.Asn392_Thr393del)
NM_024809.5(TCTN2):c.1190T>A (p.Ile397Lys)
NM_024809.5(TCTN2):c.1208G>A (p.Arg403Lys)
NM_024809.5(TCTN2):c.1264T>A (p.Phe422Ile)
NM_024809.5(TCTN2):c.1267T>G (p.Leu423Val) rs1956093773
NM_024809.5(TCTN2):c.1286A>T (p.Asn429Ile)
NM_024809.5(TCTN2):c.1288GAA[2] (p.Glu432del)
NM_024809.5(TCTN2):c.1303G>A (p.Gly435Arg)
NM_024809.5(TCTN2):c.1312+3A>G rs1381902683
NM_024809.5(TCTN2):c.1366G>A (p.Val456Ile)
NM_024809.5(TCTN2):c.1377A>C (p.Leu459Phe)
NM_024809.5(TCTN2):c.1379A>C (p.His460Pro)
NM_024809.5(TCTN2):c.1391C>T (p.Ser464Leu) rs991572501
NM_024809.5(TCTN2):c.1394-10_1394-5del rs754718630
NM_024809.5(TCTN2):c.1403G>T (p.Gly468Val) rs1345786491
NM_024809.5(TCTN2):c.1411A>C (p.Thr471Pro) rs2135849648
NM_024809.5(TCTN2):c.1432A>G (p.Ile478Val)
NM_024809.5(TCTN2):c.1447A>C (p.Asn483His)
NM_024809.5(TCTN2):c.148G>A (p.Glu50Lys) rs959524376
NM_024809.5(TCTN2):c.1499A>G (p.Gln500Arg) rs866607617
NM_024809.5(TCTN2):c.1505+3G>A
NM_024809.5(TCTN2):c.1509G>T (p.Glu503Asp)
NM_024809.5(TCTN2):c.1528G>C (p.Asp510His)
NM_024809.5(TCTN2):c.1538T>C (p.Ile513Thr)
NM_024809.5(TCTN2):c.1573G>C (p.Asp525His) rs763505614
NM_024809.5(TCTN2):c.1576T>G (p.Tyr526Asp) rs2135852961
NM_024809.5(TCTN2):c.1579G>A (p.Ala527Thr) rs760206821
NM_024809.5(TCTN2):c.1579G>T (p.Ala527Ser) rs760206821
NM_024809.5(TCTN2):c.1655G>A (p.Ser552Asn)
NM_024809.5(TCTN2):c.1685C>T (p.Ala562Val) rs2135859426
NM_024809.5(TCTN2):c.1687C>T (p.His563Tyr)
NM_024809.5(TCTN2):c.1704C>G (p.Ile568Met)
NM_024809.5(TCTN2):c.1705C>G (p.Leu569Val)
NM_024809.5(TCTN2):c.170C>T (p.Ala57Val)
NM_024809.5(TCTN2):c.1726G>C (p.Val576Leu)
NM_024809.5(TCTN2):c.1781T>C (p.Val594Ala)
NM_024809.5(TCTN2):c.1791G>T (p.Gln597His)
NM_024809.5(TCTN2):c.1810T>C (p.Cys604Arg)
NM_024809.5(TCTN2):c.1812T>G (p.Cys604Trp) rs1593871306
NM_024809.5(TCTN2):c.1847C>A (p.Ser616Tyr) rs1436566157
NM_024809.5(TCTN2):c.1882C>T (p.His628Tyr) rs2135862503
NM_024809.5(TCTN2):c.1886C>G (p.Pro629Arg) rs886049056
NM_024809.5(TCTN2):c.188C>G (p.Ala63Gly)
NM_024809.5(TCTN2):c.1892C>T (p.Thr631Ile)
NM_024809.5(TCTN2):c.1896-16_1896-15insACTTGTAGTTTTTG
NM_024809.5(TCTN2):c.1904T>G (p.Ile635Ser) rs2135862767
NM_024809.5(TCTN2):c.1910A>T (p.Tyr637Phe)
NM_024809.5(TCTN2):c.1928A>G (p.Asn643Ser)
NM_024809.5(TCTN2):c.1943_1944del (p.Cys648fs) rs2135862848
NM_024809.5(TCTN2):c.1948C>T (p.Pro650Ser)
NM_024809.5(TCTN2):c.1949C>T (p.Pro650Leu) rs1393954437
NM_024809.5(TCTN2):c.1958T>C (p.Leu653Pro)
NM_024809.5(TCTN2):c.1958_1963del (p.Leu653_Tyr654del) rs377628976
NM_024809.5(TCTN2):c.1987G>C (p.Glu663Gln) rs756940400
NM_024809.5(TCTN2):c.2001G>C (p.Gln667His)
NM_024809.5(TCTN2):c.2005G>A (p.Val669Ile) rs768699111
NM_024809.5(TCTN2):c.200C>G (p.Pro67Arg)
NM_024809.5(TCTN2):c.200C>T (p.Pro67Leu) rs772417842
NM_024809.5(TCTN2):c.2029T>G (p.Leu677Val)
NM_024809.5(TCTN2):c.2047T>G (p.Leu683Val)
NM_024809.5(TCTN2):c.2049G>T (p.Leu683Phe) rs975324103
NM_024809.5(TCTN2):c.206C>T (p.Pro69Leu)
NM_024809.5(TCTN2):c.217G>C (p.Val73Leu) rs1955760079
NM_024809.5(TCTN2):c.225_226delinsTC (p.Asn76His)
NM_024809.5(TCTN2):c.22G>A (p.Ala8Thr)
NM_024809.5(TCTN2):c.233C>G (p.Thr78Arg) rs1015790415
NM_024809.5(TCTN2):c.235G>A (p.Glu79Lys)
NM_024809.5(TCTN2):c.239A>C (p.Asp80Ala)
NM_024809.5(TCTN2):c.25C>T (p.Leu9Phe)
NM_024809.5(TCTN2):c.267G>T (p.Ala89=)
NM_024809.5(TCTN2):c.269A>G (p.Lys90Arg) rs879080073
NM_024809.5(TCTN2):c.275_276insCAC (p.Leu92delinsPheThr)
NM_024809.5(TCTN2):c.317C>G (p.Ser106Cys)
NM_024809.5(TCTN2):c.347C>A (p.Ser116Tyr)
NM_024809.5(TCTN2):c.350C>T (p.Pro117Leu)
NM_024809.5(TCTN2):c.352T>G (p.Cys118Gly) rs2135816491
NM_024809.5(TCTN2):c.374T>G (p.Val125Gly)
NM_024809.5(TCTN2):c.458C>T (p.Ala153Val)
NM_024809.5(TCTN2):c.464-7T>A rs1955862855
NM_024809.5(TCTN2):c.464-8C>G
NM_024809.5(TCTN2):c.481C>T (p.Pro161Ser)
NM_024809.5(TCTN2):c.485A>G (p.Asn162Ser)
NM_024809.5(TCTN2):c.490G>T (p.Val164Leu) rs776834352
NM_024809.5(TCTN2):c.512G>A (p.Cys171Tyr) rs1247122928
NM_024809.5(TCTN2):c.521A>G (p.Asn174Ser)
NM_024809.5(TCTN2):c.526A>G (p.Thr176Ala)
NM_024809.5(TCTN2):c.529G>A (p.Ala177Thr)
NM_024809.5(TCTN2):c.545T>C (p.Val182Ala)
NM_024809.5(TCTN2):c.547C>T (p.Arg183Cys) rs774520912
NM_024809.5(TCTN2):c.577A>G (p.Asn193Asp)
NM_024809.5(TCTN2):c.580T>G (p.Leu194Val)
NM_024809.5(TCTN2):c.587C>T (p.Thr196Met)
NM_024809.5(TCTN2):c.590T>C (p.Leu197Pro)
NM_024809.5(TCTN2):c.615C>A (p.Gly205=) rs147485641
NM_024809.5(TCTN2):c.649C>G (p.Gln217Glu)
NM_024809.5(TCTN2):c.671C>A (p.Thr224Lys) rs376996387
NM_024809.5(TCTN2):c.671C>T (p.Thr224Met) rs376996387
NM_024809.5(TCTN2):c.673A>T (p.Thr225Ser)
NM_024809.5(TCTN2):c.697C>T (p.Pro233Ser) rs1156772105
NM_024809.5(TCTN2):c.716C>A (p.Ser239Tyr)
NM_024809.5(TCTN2):c.716C>G (p.Ser239Cys) rs149186771
NM_024809.5(TCTN2):c.716C>T (p.Ser239Phe)
NM_024809.5(TCTN2):c.738C>G (p.Phe246Leu)
NM_024809.5(TCTN2):c.752A>G (p.Tyr251Cys) rs368146331
NM_024809.5(TCTN2):c.758G>T (p.Gly253Val) rs1955979058
NM_024809.5(TCTN2):c.761C>T (p.Ala254Val)
NM_024809.5(TCTN2):c.764+9C>G rs1955979503
NM_024809.5(TCTN2):c.765-11T>C
NM_024809.5(TCTN2):c.797A>T (p.Tyr266Phe)
NM_024809.5(TCTN2):c.7T>C (p.Phe3Leu)
NM_024809.5(TCTN2):c.802G>T (p.Asp268Tyr)
NM_024809.5(TCTN2):c.806C>G (p.Thr269Ser)
NM_024809.5(TCTN2):c.811G>A (p.Ala271Thr)
NM_024809.5(TCTN2):c.813A>C (p.Ala271=) rs886049054
NM_024809.5(TCTN2):c.830T>C (p.Phe277Ser) rs1566252816
NM_024809.5(TCTN2):c.848A>T (p.Asp283Val) rs2135836324
NM_024809.5(TCTN2):c.858G>T (p.Met286Ile) rs371804063
NM_024809.5(TCTN2):c.877T>A (p.Phe293Ile) rs201322440
NM_024809.5(TCTN2):c.891+5T>G rs2135836443
NM_024809.5(TCTN2):c.891+6C>T
NM_024809.5(TCTN2):c.892G>A (p.Val298Met)
NM_024809.5(TCTN2):c.892G>C (p.Val298Leu) rs886049055
NM_024809.5(TCTN2):c.902C>T (p.Ala301Val)
NM_024809.5(TCTN2):c.922G>A (p.Ala308Thr)
NM_024809.5(TCTN2):c.92C>G (p.Pro31Arg) rs1009530513
NM_024809.5(TCTN2):c.92C>T (p.Pro31Leu) rs1009530513
NM_024809.5(TCTN2):c.94C>T (p.Pro32Ser) rs2135813593
NM_024809.5(TCTN2):c.961G>A (p.Val321Ile)
NM_024809.5(TCTN2):c.965C>T (p.Thr322Ile) rs2135839958
NM_024809.5(TCTN2):c.97T>C (p.Phe33Leu)

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