ClinVar Miner

List of variants reported as uncertain significance for Joubert syndrome 17 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 217
Download table as spreadsheet
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 0.00014
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.1688A>C (p.Asp563Ala) rs369937483 0.00011
NM_015631.6(TCTN3):c.1705G>A (p.Asp569Asn) rs780308423 0.00010
NM_015631.6(TCTN3):c.1774C>G (p.Leu592Val) rs375708075 0.00008
NM_015631.6(TCTN3):c.885G>A (p.Met295Ile) rs201493612 0.00008
NM_015631.6(TCTN3):c.769C>T (p.Arg257Cys) rs780304630 0.00007
NM_015631.6(TCTN3):c.1070A>G (p.Gln357Arg) rs151123934 0.00006
NM_015631.6(TCTN3):c.326G>A (p.Cys109Tyr) rs143758863 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.627+6C>T rs190843846 0.00005
NM_002601.4(PDE6D):c.364G>A (p.Val122Ile) rs766118708 0.00004
NM_015631.6(TCTN3):c.1438C>T (p.His480Tyr) rs200151165 0.00004
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.56G>A (p.Gly19Asp) rs375924713 0.00004
NM_002601.4(PDE6D):c.182G>A (p.Arg61Gln) rs770557397 0.00003
NM_015631.6(TCTN3):c.101C>A (p.Thr34Lys) rs2097956188 0.00003
NM_015631.6(TCTN3):c.1087C>T (p.Arg363Cys) rs777277759 0.00003
NM_015631.6(TCTN3):c.1268G>A (p.Gly423Glu) rs535199429 0.00003
NM_015631.6(TCTN3):c.178G>A (p.Val60Met) rs557962090 0.00003
NM_015631.6(TCTN3):c.48C>A (p.Phe16Leu) rs1382410134 0.00003
NM_015631.6(TCTN3):c.958G>T (p.Val320Leu) rs1032919947 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.11C>T (p.Pro4Leu) rs1399269953 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.1576T>C (p.Cys526Arg) rs749117268 0.00002
NM_015631.6(TCTN3):c.1591G>A (p.Asp531Asn) rs143735885 0.00002
NM_015631.6(TCTN3):c.1606A>G (p.Thr536Ala) rs1290852650 0.00002
NM_015631.6(TCTN3):c.1607C>T (p.Thr536Ile) rs768523448 0.00002
NM_015631.6(TCTN3):c.16C>G (p.Leu6Val) rs759598264 0.00002
NM_015631.6(TCTN3):c.412G>A (p.Val138Ile) rs1281199624 0.00002
NM_015631.6(TCTN3):c.499+5G>T rs1242330719 0.00002
NM_015631.6(TCTN3):c.536A>G (p.Asn179Ser) rs943000517 0.00002
NM_001384732.1(CPLANE1):c.3040C>G (p.Leu1014Val) rs969126655 0.00001
NM_001384732.1(CPLANE1):c.4892C>T (p.Ser1631Leu) rs748759724 0.00001
NM_002601.4(PDE6D):c.103A>G (p.Thr35Ala) rs1448692172 0.00001
NM_002601.4(PDE6D):c.298A>G (p.Asn100Asp) rs2469686981 0.00001
NM_002601.4(PDE6D):c.359C>A (p.Ala120Glu) rs1430956453 0.00001
NM_002601.4(PDE6D):c.68G>A (p.Arg23Gln) rs765707721 0.00001
NM_015631.6(TCTN3):c.1048G>A (p.Val350Ile) rs766406328 0.00001
NM_015631.6(TCTN3):c.107T>C (p.Leu36Ser) rs1242296012 0.00001
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.1139G>C (p.Ser380Thr) rs1440931115 0.00001
NM_015631.6(TCTN3):c.1160T>C (p.Val387Ala) rs756610295 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.119G>A (p.Arg40Gln) rs1314333060 0.00001
NM_015631.6(TCTN3):c.1203A>G (p.Ser401=) rs775201476 0.00001
NM_015631.6(TCTN3):c.121G>A (p.Gly41Arg) rs1194762228 0.00001
NM_015631.6(TCTN3):c.1224_1226del (p.Gln408_Gly409delinsHis) rs771545094 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.1381A>G (p.Ile461Val) rs747613046 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.1469C>T (p.Ser490Phe) rs759717531 0.00001
NM_015631.6(TCTN3):c.1489T>G (p.Ser497Ala) rs2097942002 0.00001
NM_015631.6(TCTN3):c.1513G>A (p.Ala505Thr) rs376520003 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.1669A>G (p.Arg557Gly) rs754193676 0.00001
NM_015631.6(TCTN3):c.1755A>T (p.Lys585Asn) rs776341556 0.00001
NM_015631.6(TCTN3):c.1771A>T (p.Ile591Phe) rs746968875 0.00001
NM_015631.6(TCTN3):c.1772T>C (p.Ile591Thr) rs2097923898 0.00001
NM_015631.6(TCTN3):c.1796T>G (p.Leu599Arg) rs1291662541 0.00001
NM_015631.6(TCTN3):c.17T>C (p.Leu6Pro) rs990875124 0.00001
NM_015631.6(TCTN3):c.181C>A (p.Pro61Thr) rs999127884 0.00001
NM_015631.6(TCTN3):c.223G>A (p.Ala75Thr) rs1391185443 0.00001
NM_015631.6(TCTN3):c.265A>T (p.Ile89Phe) rs1263060396 0.00001
NM_015631.6(TCTN3):c.295T>C (p.Cys99Arg) rs2492790965 0.00001
NM_015631.6(TCTN3):c.322G>T (p.Asp108Tyr) rs2139767280 0.00001
NM_015631.6(TCTN3):c.323A>G (p.Asp108Gly) rs1327911768 0.00001
NM_015631.6(TCTN3):c.381-3C>T rs546476903 0.00001
NM_015631.6(TCTN3):c.491T>C (p.Val164Ala) rs1314557393 0.00001
NM_015631.6(TCTN3):c.554C>T (p.Ala185Val) rs888815068 0.00001
NM_015631.6(TCTN3):c.570T>G (p.Phe190Leu) rs1449792057 0.00001
NM_015631.6(TCTN3):c.61C>T (p.Arg21Trp) rs2097956260 0.00001
NM_015631.6(TCTN3):c.628G>T (p.Ala210Ser) rs541135431 0.00001
NM_015631.6(TCTN3):c.766A>G (p.Thr256Ala) rs780438906 0.00001
NM_015631.6(TCTN3):c.780G>C (p.Lys260Asn) rs757700628 0.00001
NM_015631.6(TCTN3):c.818A>G (p.Asn273Ser) rs762720849 0.00001
NM_015631.6(TCTN3):c.82C>G (p.Pro28Ala) rs897344363 0.00001
NM_015631.6(TCTN3):c.852+4G>A rs2139748541 0.00001
NM_015631.6(TCTN3):c.853G>A (p.Val285Ile) rs1351530754 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
NM_015631.6(TCTN3):c.92C>A (p.Ala31Glu) rs2097956191 0.00001
NM_015631.6(TCTN3):c.957T>G (p.Asn319Lys) rs1176554738 0.00001
NC_000002.11:g.(?_231033840)_(234978657_?)dup
NC_000002.11:g.(?_232597662)_(232597763_?)del
NC_000002.11:g.(?_232597662)_(232597763_?)dup
NC_000002.11:g.(?_232597662)_(232603918_?)dup
NC_000010.10:g.(?_97440209)_(97440386_?)del
NC_000010.10:g.(?_97442388)_(97516032_?)dup
NM_002601.4(PDE6D):c.143G>A (p.Arg48His)
NM_002601.4(PDE6D):c.224G>A (p.Arg75His) rs367809264
NM_002601.4(PDE6D):c.227T>C (p.Leu76Pro) rs2048717432
NM_002601.4(PDE6D):c.266-3C>T rs2106260539
NM_002601.4(PDE6D):c.304A>C (p.Thr102Pro) rs2106260506
NM_002601.4(PDE6D):c.30G>C (p.Glu10Asp) rs775389135
NM_002601.4(PDE6D):c.311C>T (p.Thr104Ile) rs2048708941
NM_002601.4(PDE6D):c.328G>A (p.Glu110Lys) rs1023549002
NM_002601.4(PDE6D):c.390A>T (p.Glu130Asp) rs2106256926
NM_002601.4(PDE6D):c.40G>A (p.Gly14Ser) rs1366113264
NM_002601.4(PDE6D):c.424A>G (p.Thr142Ala) rs1192555580
NM_002601.4(PDE6D):c.51A>C (p.Leu17=) rs1328575509
NM_002601.4(PDE6D):c.67C>T (p.Arg23Trp) rs570163390
NM_015631.6(TCTN3):c.1008C>G (p.Ile336Met) rs747888353
NM_015631.6(TCTN3):c.1013A>G (p.Lys338Arg) rs1206102625
NM_015631.6(TCTN3):c.1076A>G (p.His359Arg) rs982781639
NM_015631.6(TCTN3):c.1079T>G (p.Phe360Cys) rs761227554
NM_015631.6(TCTN3):c.1103A>C (p.Gln368Pro) rs200742071
NM_015631.6(TCTN3):c.1133C>A (p.Pro378His) rs2492744980
NM_015631.6(TCTN3):c.1138A>G (p.Ser380Gly) rs745968146
NM_015631.6(TCTN3):c.1142G>T (p.Gly381Val)
NM_015631.6(TCTN3):c.1160T>G (p.Val387Gly) rs756610295
NM_015631.6(TCTN3):c.1163G>C (p.Gly388Ala) rs546369579
NM_015631.6(TCTN3):c.1176G>C (p.Leu392Phe) rs931265396
NM_015631.6(TCTN3):c.1177G>A (p.Ala393Thr) rs1432135827
NM_015631.6(TCTN3):c.1189G>A (p.Asp397Asn) rs1239502080
NM_015631.6(TCTN3):c.1192A>G (p.Ile398Val) rs776333324
NM_015631.6(TCTN3):c.1203+5C>T rs2139739478
NM_015631.6(TCTN3):c.1210C>T (p.Leu404Phe) rs1008019391
NM_015631.6(TCTN3):c.1213T>A (p.Leu405Ile) rs2492743061
NM_015631.6(TCTN3):c.1232G>C (p.Gly411Ala) rs140405704
NM_015631.6(TCTN3):c.1238G>A (p.Cys413Tyr) rs2139738439
NM_015631.6(TCTN3):c.1253A>G (p.His418Arg) rs780440917
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.1348C>T (p.Leu450Phe) rs2139737228
NM_015631.6(TCTN3):c.1361C>G (p.Pro454Arg) rs1462507553
NM_015631.6(TCTN3):c.137C>T (p.Thr46Ile) rs2492795256
NM_015631.6(TCTN3):c.1402G>C (p.Ala468Pro) rs1218187792
NM_015631.6(TCTN3):c.1415G>A (p.Gly472Glu) rs2492739853
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.1451C>T (p.Ser484Leu) rs2139736784
NM_015631.6(TCTN3):c.1457T>A (p.Ile486Lys) rs2097942057
NM_015631.6(TCTN3):c.1474_1484del (p.Cys492fs) rs1454064691
NM_015631.6(TCTN3):c.1490C>G (p.Ser497Cys) rs139612049
NM_015631.6(TCTN3):c.1499T>C (p.Ile500Thr) rs1327433488
NM_015631.6(TCTN3):c.1562G>A (p.Arg521Gln) rs765803620
NM_015631.6(TCTN3):c.1562G>C (p.Arg521Pro) rs765803620
NM_015631.6(TCTN3):c.1564T>C (p.Phe522Leu) rs2492731203
NM_015631.6(TCTN3):c.1575G>T (p.Gln525His) rs768137956
NM_015631.6(TCTN3):c.1580A>G (p.Gln527Arg) rs1474769675
NM_015631.6(TCTN3):c.1583C>A (p.Ser528Tyr) rs2492731065
NM_015631.6(TCTN3):c.1589A>G (p.Gln530Arg) rs1165507491
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.1707CTT[1] (p.Phe571del) rs2492672765
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.1762G>A (p.Val588Ile) rs1416641435
NM_015631.6(TCTN3):c.1766C>G (p.Ser589Cys) rs927310199
NM_015631.6(TCTN3):c.1774C>T (p.Leu592Phe) rs375708075
NM_015631.6(TCTN3):c.1816A>G (p.Thr606Ala) rs2492671725
NM_015631.6(TCTN3):c.1819_1820del (p.Met607fs) rs1371026167
NM_015631.6(TCTN3):c.191C>T (p.Pro64Leu) rs2492794421
NM_015631.6(TCTN3):c.194C>T (p.Thr65Ile) rs2097955954
NM_015631.6(TCTN3):c.245A>T (p.Asp82Val) rs2139768503
NM_015631.6(TCTN3):c.256G>T (p.Val86Phe) rs1479797302
NM_015631.6(TCTN3):c.301A>T (p.Ile101Leu) rs2139767336
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) rs1476594866
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) rs1034323869
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) rs2492786012
NM_015631.6(TCTN3):c.510C>G (p.Asn170Lys) rs2492764825
NM_015631.6(TCTN3):c.52G>A (p.Asp18Asn) rs2139769650
NM_015631.6(TCTN3):c.593C>T (p.Thr198Ile) rs2492764054
NM_015631.6(TCTN3):c.614C>T (p.Pro205Leu) rs2139750466
NM_015631.6(TCTN3):c.627+6C>G rs190843846
NM_015631.6(TCTN3):c.627G>A (p.Arg209=) rs752918067
NM_015631.6(TCTN3):c.62G>T (p.Arg21Leu) rs1406986953
NM_015631.6(TCTN3):c.670A>G (p.Ile224Val) rs2492762393
NM_015631.6(TCTN3):c.707G>A (p.Gly236Glu) rs2492762228
NM_015631.6(TCTN3):c.728A>G (p.Asn243Ser) rs1555270274
NM_015631.6(TCTN3):c.735A>G (p.Ala245=) rs2097949239
NM_015631.6(TCTN3):c.755G>A (p.Ser252Asn) rs1566074509
NM_015631.6(TCTN3):c.760A>G (p.Thr254Ala) rs2492761267
NM_015631.6(TCTN3):c.769C>A (p.Arg257Ser) rs780304630
NM_015631.6(TCTN3):c.850A>G (p.Lys284Glu) rs2139748562
NM_015631.6(TCTN3):c.853-11T>C rs2492758217
NM_015631.6(TCTN3):c.867G>A (p.Met289Ile) rs2492758017
NM_015631.6(TCTN3):c.873T>A (p.Asp291Glu) rs2139747266
NM_015631.6(TCTN3):c.877C>A (p.Gln293Lys) rs764091969
NM_015631.6(TCTN3):c.888+3A>T rs749620204
NM_015631.6(TCTN3):c.907C>T (p.Leu303Phe) rs2492753584
NM_015631.6(TCTN3):c.911C>T (p.Thr304Ile) rs1024201294
NM_015631.6(TCTN3):c.936G>A (p.Leu312=) rs2492753329
NM_015631.6(TCTN3):c.965C>G (p.Ser322Cys) rs1449600951
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) rs2492749189
NM_015631.6(TCTN3):c.995G>C (p.Gly332Ala) rs2492749167

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