ClinVar Miner

List of variants in gene TCTN3 reported as uncertain significance for bone development disease

Included ClinVar conditions (614):
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Gene type:
ClinVar version:
Total variants: 173
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HGVS dbSNP gnomAD frequency
NM_015631.6(TCTN3):c.1403C>T (p.Ala468Val) rs140103426 0.00026
NM_015631.6(TCTN3):c.283A>C (p.Thr95Pro) rs749447795 0.00024
NM_015631.6(TCTN3):c.977A>G (p.Tyr326Cys) rs888502576 0.00016
NM_015631.6(TCTN3):c.821C>G (p.Ala274Gly) rs377047502 0.00015
NM_015631.6(TCTN3):c.1474T>A (p.Cys492Ser) rs149728983 0.00013
NM_015631.6(TCTN3):c.878A>G (p.Gln293Arg) rs141231095 0.00012
NM_015631.6(TCTN3):c.1705G>A (p.Asp569Asn) rs780308423 0.00010
NM_015631.6(TCTN3):c.885G>A (p.Met295Ile) rs201493612 0.00008
NM_015631.6(TCTN3):c.1774C>G (p.Leu592Val) rs375708075 0.00007
NM_015631.6(TCTN3):c.1070A>G (p.Gln357Arg) rs151123934 0.00006
NM_015631.6(TCTN3):c.769C>T (p.Arg257Cys) rs780304630 0.00006
NM_015631.6(TCTN3):c.970G>A (p.Val324Ile) rs769275482 0.00006
NM_015631.6(TCTN3):c.488A>G (p.His163Arg) rs376756059 0.00005
NM_015631.6(TCTN3):c.1537C>T (p.Pro513Ser) rs755942179 0.00004
NM_015631.6(TCTN3):c.1590+4A>T rs756071891 0.00004
NM_015631.6(TCTN3):c.326G>A (p.Cys109Tyr) rs143758863 0.00004
NM_015631.6(TCTN3):c.627+6C>T rs190843846 0.00004
NM_015631.6(TCTN3):c.1268G>A (p.Gly423Glu) rs535199429 0.00003
NM_015631.6(TCTN3):c.1059C>T (p.Gly353=) rs750698768 0.00002
NM_015631.6(TCTN3):c.1060G>A (p.Ala354Thr) rs765375312 0.00002
NM_015631.6(TCTN3):c.1087C>T (p.Arg363Cys) rs777277759 0.00002
NM_015631.6(TCTN3):c.1396G>C (p.Asp466His) rs754607949 0.00002
NM_015631.6(TCTN3):c.1421C>A (p.Thr474Asn) rs1190331074 0.00002
NM_015631.6(TCTN3):c.1606A>G (p.Thr536Ala) rs1290852650 0.00002
NM_015631.6(TCTN3):c.499+5G>T rs1242330719 0.00002
NM_015631.6(TCTN3):c.628G>T (p.Ala210Ser) rs541135431 0.00002
NM_015631.6(TCTN3):c.957T>G (p.Asn319Lys) rs1176554738 0.00002
NM_015631.6(TCTN3):c.1088G>A (p.Arg363His) rs1267547707 0.00001
NM_015631.6(TCTN3):c.1111A>G (p.Thr371Ala) rs768480385 0.00001
NM_015631.6(TCTN3):c.1138A>G (p.Ser380Gly) rs745968146 0.00001
NM_015631.6(TCTN3):c.1176G>T (p.Leu392Phe) rs931265396 0.00001
NM_015631.6(TCTN3):c.1196G>A (p.Ser399Asn) rs768285987 0.00001
NM_015631.6(TCTN3):c.1271T>G (p.Val424Gly) rs200705429 0.00001
NM_015631.6(TCTN3):c.1279A>G (p.Ile427Val) rs142986132 0.00001
NM_015631.6(TCTN3):c.1285G>A (p.Gly429Arg) rs773447066 0.00001
NM_015631.6(TCTN3):c.1346C>G (p.Thr449Ser) rs775556315 0.00001
NM_015631.6(TCTN3):c.1453G>T (p.Ala485Ser) rs2097942068 0.00001
NM_015631.6(TCTN3):c.1463G>C (p.Cys488Ser) rs1273735180 0.00001
NM_015631.6(TCTN3):c.1466C>T (p.Thr489Ile) rs767733835 0.00001
NM_015631.6(TCTN3):c.1538C>T (p.Pro513Leu) rs756561177 0.00001
NM_015631.6(TCTN3):c.1572C>G (p.Tyr524Ter) rs771745084 0.00001
NM_015631.6(TCTN3):c.1592A>T (p.Asp531Val) rs747933488 0.00001
NM_015631.6(TCTN3):c.1606_1611del (p.Thr536_Glu537del) rs891059654 0.00001
NM_015631.6(TCTN3):c.1607C>T (p.Thr536Ile) rs768523448 0.00001
NM_015631.6(TCTN3):c.1771A>T (p.Ile591Phe) rs746968875 0.00001
NM_015631.6(TCTN3):c.381-3C>T rs546476903 0.00001
NM_015631.6(TCTN3):c.606A>G (p.Gln202=) rs777642622 0.00001
NM_015631.6(TCTN3):c.627G>A (p.Arg209=) rs752918067 0.00001
NM_015631.6(TCTN3):c.766A>G (p.Thr256Ala) rs780438906 0.00001
NM_015631.6(TCTN3):c.818A>G (p.Asn273Ser) rs762720849 0.00001
NM_015631.6(TCTN3):c.879G>C (p.Gln293His) rs147928670 0.00001
NM_015631.6(TCTN3):c.883A>G (p.Met295Val) rs746046233 0.00001
NM_015631.6(TCTN3):c.894G>C (p.Gln298His) rs1464905299 0.00001
NM_015631.6(TCTN3):c.924T>G (p.Asn308Lys) rs971089853 0.00001
NC_000010.10:g.(?_97440209)_(97440386_?)del
NM_015631.6(TCTN3):c.1008C>G (p.Ile336Met)
NM_015631.6(TCTN3):c.1013A>G (p.Lys338Arg) rs1206102625
NM_015631.6(TCTN3):c.1048G>A (p.Val350Ile)
NM_015631.6(TCTN3):c.1076A>G (p.His359Arg) rs982781639
NM_015631.6(TCTN3):c.1079T>G (p.Phe360Cys)
NM_015631.6(TCTN3):c.1103A>C (p.Gln368Pro) rs200742071
NM_015631.6(TCTN3):c.1133C>A (p.Pro378His)
NM_015631.6(TCTN3):c.1139G>C (p.Ser380Thr)
NM_015631.6(TCTN3):c.1160T>C (p.Val387Ala)
NM_015631.6(TCTN3):c.1160T>G (p.Val387Gly)
NM_015631.6(TCTN3):c.1163G>C (p.Gly388Ala)
NM_015631.6(TCTN3):c.1176G>C (p.Leu392Phe)
NM_015631.6(TCTN3):c.1177G>A (p.Ala393Thr) rs1432135827
NM_015631.6(TCTN3):c.1189G>A (p.Asp397Asn)
NM_015631.6(TCTN3):c.1192A>G (p.Ile398Val)
NM_015631.6(TCTN3):c.1203+5C>T rs2139739478
NM_015631.6(TCTN3):c.1203A>G (p.Ser401=)
NM_015631.6(TCTN3):c.1210C>T (p.Leu404Phe) rs1008019391
NM_015631.6(TCTN3):c.1213T>A (p.Leu405Ile)
NM_015631.6(TCTN3):c.1224_1226del (p.Gln408_Gly409delinsHis)
NM_015631.6(TCTN3):c.1232G>C (p.Gly411Ala)
NM_015631.6(TCTN3):c.1238G>A (p.Cys413Tyr) rs2139738439
NM_015631.6(TCTN3):c.1253A>G (p.His418Arg)
NM_015631.6(TCTN3):c.1259T>G (p.Val420Gly) rs2139738378
NM_015631.6(TCTN3):c.1298G>C (p.Arg433Thr) rs2139738242
NM_015631.6(TCTN3):c.1299-3T>C rs2097944388
NM_015631.6(TCTN3):c.1348C>T (p.Leu450Phe) rs2139737228
NM_015631.6(TCTN3):c.1361C>G (p.Pro454Arg)
NM_015631.6(TCTN3):c.1381A>G (p.Ile461Val)
NM_015631.6(TCTN3):c.1402G>C (p.Ala468Pro) rs1218187792
NM_015631.6(TCTN3):c.1415G>A (p.Gly472Glu)
NM_015631.6(TCTN3):c.1417T>C (p.Trp473Arg) rs2097944204
NM_015631.6(TCTN3):c.1421C>G (p.Thr474Ser) rs1190331074
NM_015631.6(TCTN3):c.1438C>T (p.His480Tyr)
NM_015631.6(TCTN3):c.1451C>T (p.Ser484Leu) rs2139736784
NM_015631.6(TCTN3):c.1457T>A (p.Ile486Lys) rs2097942057
NM_015631.6(TCTN3):c.1469C>T (p.Ser490Phe)
NM_015631.6(TCTN3):c.1474_1484del (p.Cys492fs) rs1454064691
NM_015631.6(TCTN3):c.1489T>G (p.Ser497Ala)
NM_015631.6(TCTN3):c.1490C>G (p.Ser497Cys)
NM_015631.6(TCTN3):c.1499T>C (p.Ile500Thr)
NM_015631.6(TCTN3):c.1513G>A (p.Ala505Thr)
NM_015631.6(TCTN3):c.1562G>A (p.Arg521Gln)
NM_015631.6(TCTN3):c.1562G>C (p.Arg521Pro) rs765803620
NM_015631.6(TCTN3):c.1564T>C (p.Phe522Leu)
NM_015631.6(TCTN3):c.1575G>T (p.Gln525His)
NM_015631.6(TCTN3):c.1576T>C (p.Cys526Arg)
NM_015631.6(TCTN3):c.1580A>G (p.Gln527Arg)
NM_015631.6(TCTN3):c.1583C>A (p.Ser528Tyr)
NM_015631.6(TCTN3):c.1589A>G (p.Gln530Arg) rs1165507491
NM_015631.6(TCTN3):c.1591G>A (p.Asp531Asn)
NM_015631.6(TCTN3):c.1591G>T (p.Asp531Tyr) rs143735885
NM_015631.6(TCTN3):c.1647del (p.Thr550fs) rs2139691832
NM_015631.6(TCTN3):c.1660C>T (p.Gln554Ter) rs2139691743
NM_015631.6(TCTN3):c.1669A>G (p.Arg557Gly)
NM_015631.6(TCTN3):c.1688A>C (p.Asp563Ala)
NM_015631.6(TCTN3):c.1707CTT[1] (p.Phe571del)
NM_015631.6(TCTN3):c.1736G>A (p.Arg579Lys) rs1352225292
NM_015631.6(TCTN3):c.1741G>C (p.Val581Leu) rs1566062590
NM_015631.6(TCTN3):c.1755A>T (p.Lys585Asn)
NM_015631.6(TCTN3):c.1762G>A (p.Val588Ile)
NM_015631.6(TCTN3):c.1766C>G (p.Ser589Cys) rs927310199
NM_015631.6(TCTN3):c.1772T>C (p.Ile591Thr)
NM_015631.6(TCTN3):c.1774C>T (p.Leu592Phe)
NM_015631.6(TCTN3):c.1796T>G (p.Leu599Arg) rs1291662541
NM_015631.6(TCTN3):c.1816A>G (p.Thr606Ala)
NM_015631.6(TCTN3):c.1819_1820del (p.Met607fs)
NM_015631.6(TCTN3):c.265A>T (p.Ile89Phe)
NM_015631.6(TCTN3):c.295T>C (p.Cys99Arg)
NM_015631.6(TCTN3):c.301A>T (p.Ile101Leu) rs2139767336
NM_015631.6(TCTN3):c.322G>T (p.Asp108Tyr) rs2139767280
NM_015631.6(TCTN3):c.323A>G (p.Asp108Gly)
NM_015631.6(TCTN3):c.361T>G (p.Cys121Gly) rs2139767099
NM_015631.6(TCTN3):c.362G>C (p.Cys121Ser) rs1165732615
NM_015631.6(TCTN3):c.367C>A (p.Pro123Thr)
NM_015631.6(TCTN3):c.368C>G (p.Pro123Arg) rs1005806916
NM_015631.6(TCTN3):c.390C>G (p.Ser130Arg) rs533262975
NM_015631.6(TCTN3):c.393G>C (p.Trp131Cys)
NM_015631.6(TCTN3):c.412G>A (p.Val138Ile)
NM_015631.6(TCTN3):c.434C>T (p.Pro145Leu) rs1489817091
NM_015631.6(TCTN3):c.455T>C (p.Met152Thr) rs2139764940
NM_015631.6(TCTN3):c.476A>G (p.Gln159Arg)
NM_015631.6(TCTN3):c.491T>C (p.Val164Ala) rs1314557393
NM_015631.6(TCTN3):c.510C>G (p.Asn170Lys)
NM_015631.6(TCTN3):c.536A>G (p.Asn179Ser)
NM_015631.6(TCTN3):c.554C>T (p.Ala185Val) rs888815068
NM_015631.6(TCTN3):c.566A>G (p.Glu189Gly)
NM_015631.6(TCTN3):c.570T>G (p.Phe190Leu)
NM_015631.6(TCTN3):c.593C>T (p.Thr198Ile)
NM_015631.6(TCTN3):c.614C>T (p.Pro205Leu) rs2139750466
NM_015631.6(TCTN3):c.627+6C>G
NM_015631.6(TCTN3):c.670A>G (p.Ile224Val)
NM_015631.6(TCTN3):c.707G>A (p.Gly236Glu)
NM_015631.6(TCTN3):c.728A>G (p.Asn243Ser) rs1555270274
NM_015631.6(TCTN3):c.730C>G (p.Pro244Ala) rs1389518788
NM_015631.6(TCTN3):c.735A>G (p.Ala245=) rs2097949239
NM_015631.6(TCTN3):c.755G>A (p.Ser252Asn)
NM_015631.6(TCTN3):c.760A>G (p.Thr254Ala)
NM_015631.6(TCTN3):c.769C>A (p.Arg257Ser) rs780304630
NM_015631.6(TCTN3):c.780G>C (p.Lys260Asn)
NM_015631.6(TCTN3):c.850A>G (p.Lys284Glu) rs2139748562
NM_015631.6(TCTN3):c.852+4G>A rs2139748541
NM_015631.6(TCTN3):c.853-11T>C
NM_015631.6(TCTN3):c.853G>A (p.Val285Ile)
NM_015631.6(TCTN3):c.867G>A (p.Met289Ile)
NM_015631.6(TCTN3):c.873T>A (p.Asp291Glu) rs2139747266
NM_015631.6(TCTN3):c.877C>A (p.Gln293Lys)
NM_015631.6(TCTN3):c.888+3A>T
NM_015631.6(TCTN3):c.907C>T (p.Leu303Phe)
NM_015631.6(TCTN3):c.911C>T (p.Thr304Ile) rs1024201294
NM_015631.6(TCTN3):c.936G>A (p.Leu312=)
NM_015631.6(TCTN3):c.958G>T (p.Val320Leu)
NM_015631.6(TCTN3):c.965C>G (p.Ser322Cys)
NM_015631.6(TCTN3):c.969G>T (p.Gln323His)
NM_015631.6(TCTN3):c.979G>A (p.Glu327Lys) rs745387147
NM_015631.6(TCTN3):c.982A>T (p.Ile328Leu) rs1267152740
NM_015631.6(TCTN3):c.994G>A (p.Gly332Arg)
NM_015631.6(TCTN3):c.995G>C (p.Gly332Ala)

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