ClinVar Miner

List of variants in gene TCTN2 reported as uncertain significance for Meckel syndrome, type 8; Joubert syndrome 24

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Total variants: 106
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HGVS dbSNP gnomAD frequency
NM_024809.5(TCTN2):c.668C>T (p.Thr223Met) rs145374149 0.00124
NM_024809.5(TCTN2):c.776A>G (p.Gln259Arg) rs151318349 0.00070
NM_024809.5(TCTN2):c.500C>T (p.Pro167Leu) rs201140519 0.00020
NM_024809.5(TCTN2):c.1723G>A (p.Ala575Thr) rs202157566 0.00010
NM_024809.5(TCTN2):c.631G>A (p.Val211Ile) rs544183268 0.00010
NM_024809.5(TCTN2):c.1712C>T (p.Ser571Leu) rs372687837 0.00009
NM_024809.5(TCTN2):c.22G>A (p.Ala8Thr) rs773471004 0.00009
NM_024809.5(TCTN2):c.1699C>T (p.Arg567Cys) rs369121651 0.00008
NM_024809.5(TCTN2):c.76G>T (p.Asp26Tyr) rs147746146 0.00007
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.259C>T (p.Pro87Ser) rs138562955 0.00005
NM_024809.5(TCTN2):c.82+11C>T rs377654309 0.00005
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.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.1007C>T (p.Ala336Val) rs747135310 0.00003
NM_024809.5(TCTN2):c.1700G>A (p.Arg567His) rs780065531 0.00003
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.412C>T (p.Leu138Phe) rs372053991 0.00003
NM_024809.5(TCTN2):c.781T>C (p.Ser261Pro) rs140814969 0.00003
NM_024809.5(TCTN2):c.1154A>G (p.Tyr385Cys) rs761842049 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.548G>A (p.Arg183His) rs369164141 0.00002
NM_024809.5(TCTN2):c.957A>G (p.Lys319=) rs1331215787 0.00002
NM_024809.5(TCTN2):c.1135G>T (p.Val379Leu) rs779079765 0.00001
NM_024809.5(TCTN2):c.125G>A (p.Ser42Asn) rs578209704 0.00001
NM_024809.5(TCTN2):c.1321C>T (p.Leu441Phe) rs752861868 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.148G>A (p.Glu50Lys) rs959524376 0.00001
NM_024809.5(TCTN2):c.1655G>A (p.Ser552Asn) rs184121410 0.00001
NM_024809.5(TCTN2):c.1663G>A (p.Gly555Ser) rs776273224 0.00001
NM_024809.5(TCTN2):c.1705C>G (p.Leu569Val) rs371239697 0.00001
NM_024809.5(TCTN2):c.170C>T (p.Ala57Val) rs1335349033 0.00001
NM_024809.5(TCTN2):c.1713G>A (p.Ser571=) rs772675747 0.00001
NM_024809.5(TCTN2):c.185A>C (p.Glu62Ala) rs376100033 0.00001
NM_024809.5(TCTN2):c.490G>A (p.Val164Met) rs776834352 0.00001
NM_024809.5(TCTN2):c.811G>A (p.Ala271Thr) rs757163495 0.00001
NM_024809.5(TCTN2):c.887C>T (p.Pro296Leu) rs750458642 0.00001
NM_024809.5(TCTN2):c.1043C>T (p.Thr348Ile) rs564412882
NM_024809.5(TCTN2):c.1073A>C (p.Asp358Ala)
NM_024809.5(TCTN2):c.1126C>T (p.Pro376Ser)
NM_024809.5(TCTN2):c.112G>T (p.Gly38Cys) rs1955751143
NM_024809.5(TCTN2):c.1146A>C (p.Glu382Asp)
NM_024809.5(TCTN2):c.1165T>C (p.Trp389Arg) rs200080239
NM_024809.5(TCTN2):c.1177A>G (p.Thr393Ala)
NM_024809.5(TCTN2):c.1180A>G (p.Ile394Val)
NM_024809.5(TCTN2):c.1267T>G (p.Leu423Val) rs1956093773
NM_024809.5(TCTN2):c.1301C>T (p.Ser434Phe)
NM_024809.5(TCTN2):c.1340C>T (p.Ala447Val)
NM_024809.5(TCTN2):c.1445A>C (p.Glu482Ala)
NM_024809.5(TCTN2):c.1505+4A>G
NM_024809.5(TCTN2):c.1547C>G (p.Thr516Ser)
NM_024809.5(TCTN2):c.1570T>C (p.Ser524Pro)
NM_024809.5(TCTN2):c.1577A>G (p.Tyr526Cys)
NM_024809.5(TCTN2):c.1579G>A (p.Ala527Thr) rs760206821
NM_024809.5(TCTN2):c.1603G>A (p.Glu535Lys)
NM_024809.5(TCTN2):c.1612+2dup
NM_024809.5(TCTN2):c.1670G>A (p.Cys557Tyr)
NM_024809.5(TCTN2):c.1682C>G (p.Pro561Arg)
NM_024809.5(TCTN2):c.1692G>C (p.Leu564=)
NM_024809.5(TCTN2):c.1743G>A (p.Gln581=)
NM_024809.5(TCTN2):c.1753C>G (p.Leu585Val)
NM_024809.5(TCTN2):c.179A>G (p.Gln60Arg)
NM_024809.5(TCTN2):c.1802G>T (p.Gly601Val)
NM_024809.5(TCTN2):c.1885C>T (p.Pro629Ser)
NM_024809.5(TCTN2):c.1896-17_1896-16delinsAA
NM_024809.5(TCTN2):c.1900C>G (p.Gln634Glu)
NM_024809.5(TCTN2):c.1905C>T (p.Ile635=)
NM_024809.5(TCTN2):c.191-10_191-8del rs1955759155
NM_024809.5(TCTN2):c.1936G>A (p.Glu646Lys)
NM_024809.5(TCTN2):c.1958_1963del (p.Leu653_Tyr654del) rs377628976
NM_024809.5(TCTN2):c.1969A>G (p.Thr657Ala)
NM_024809.5(TCTN2):c.1998T>C (p.Ser666=)
NM_024809.5(TCTN2):c.209C>T (p.Thr70Met)
NM_024809.5(TCTN2):c.223A>G (p.Asn75Asp)
NM_024809.5(TCTN2):c.266C>T (p.Ala89Val)
NM_024809.5(TCTN2):c.267+17A>T rs1593828714
NM_024809.5(TCTN2):c.287T>G (p.Val96Gly)
NM_024809.5(TCTN2):c.347C>A (p.Ser116Tyr) rs368334136
NM_024809.5(TCTN2):c.359T>C (p.Leu120Pro)
NM_024809.5(TCTN2):c.406C>G (p.His136Asp)
NM_024809.5(TCTN2):c.409C>G (p.Leu137Val)
NM_024809.5(TCTN2):c.4G>A (p.Gly2Ser)
NM_024809.5(TCTN2):c.547C>T (p.Arg183Cys) rs774520912
NM_024809.5(TCTN2):c.613G>A (p.Gly205Ser) rs201827132
NM_024809.5(TCTN2):c.613G>T (p.Gly205Cys) rs201827132
NM_024809.5(TCTN2):c.671C>T (p.Thr224Met) rs376996387
NM_024809.5(TCTN2):c.701T>C (p.Phe234Ser)
NM_024809.5(TCTN2):c.716C>A (p.Ser239Tyr) rs149186771
NM_024809.5(TCTN2):c.724G>A (p.Ala242Thr)
NM_024809.5(TCTN2):c.758G>T (p.Gly253Val) rs1955979058
NM_024809.5(TCTN2):c.806C>G (p.Thr269Ser) rs921760934
NM_024809.5(TCTN2):c.82+17A>G
NM_024809.5(TCTN2):c.82+8C>T
NM_024809.5(TCTN2):c.832G>T (p.Gly278Cys)
NM_024809.5(TCTN2):c.836A>G (p.Tyr279Cys)
NM_024809.5(TCTN2):c.891+6C>T rs766692860
NM_024809.5(TCTN2):c.961G>A (p.Val321Ile) rs531586530
NM_024809.5(TCTN2):c.991G>A (p.Asp331Asn)

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