ClinVar Miner

List of variants reported as likely benign for Jeune syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 152
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001377.3(DYNC2H1):c.5558+4A>G rs11225578 0.09042
NM_001377.3(DYNC2H1):c.1021C>T (p.His341Tyr) rs17301182 0.08896
NM_147127.5(EVC2):c.-15G>A rs76269601 0.07112
NM_001377.3(DYNC2H1):c.12457-6C>T rs11225812 0.07031
NM_001377.3(DYNC2H1):c.21C>T (p.Asp7=) rs17301028 0.06471
NM_001377.3(DYNC2H1):c.911A>T (p.Gln304Leu) rs12146610 0.04434
NM_001377.3(DYNC2H1):c.2454G>A (p.Glu818=) rs77738279 0.03138
NM_001377.3(DYNC2H1):c.1367G>A (p.Arg456Gln) rs17099969 0.02244
NM_001377.3(DYNC2H1):c.4068C>T (p.Phe1356=) rs74713170 0.01817
NM_001377.3(DYNC2H1):c.2818+13T>C rs150786504 0.01790
NM_001377.3(DYNC2H1):c.*265C>T rs78537620 0.01600
NM_001377.3(DYNC2H1):c.7122G>A (p.Leu2374=) rs116574613 0.01532
NM_001377.3(DYNC2H1):c.-94G>T rs114993913 0.01448
NM_020779.4(WDR35):c.*2315G>C rs72779355 0.01383
NM_001377.3(DYNC2H1):c.10479C>G (p.Leu3493=) rs151056947 0.01339
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu) rs80026831 0.01296
NM_024753.5(TTC21B):c.838A>G (p.Met280Val) rs112868646 0.01295
NM_020779.4(WDR35):c.1601G>A (p.Arg534Gln) rs113345685 0.01206
NM_001377.3(DYNC2H1):c.2860G>A (p.Glu954Lys) rs61898615 0.01194
NM_001199397.3(NEK1):c.-488C>T rs62334514 0.01094
NM_147127.5(EVC2):c.-19T>C rs188508515 0.00949
NM_014714.4(IFT140):c.*63A>G rs149678731 0.00706
NM_014714.4(IFT140):c.2569G>A (p.Gly857Ser) rs200876696 0.00622
NM_024753.5(TTC21B):c.2322+3A>G rs79037278 0.00575
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547 0.00561
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725 0.00537
NM_014714.4(IFT140):c.4040+11G>A rs144624901 0.00530
NM_020779.4(WDR35):c.*531T>A rs187092318 0.00530
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456 0.00451
NM_153717.3(EVC):c.*2126T>G rs191415414 0.00444
NM_024753.5(TTC21B):c.*1225C>T rs60399987 0.00424
NM_020800.3(IFT80):c.371-10C>A rs188321058 0.00420
NM_001199397.3(NEK1):c.2235T>G (p.Asn745Lys) rs34324114 0.00417
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg) rs141287105 0.00406
NM_020800.3(IFT80):c.*1089T>C rs181651029 0.00377
NM_024753.5(TTC21B):c.*656G>A rs180737925 0.00376
NM_147127.5(EVC2):c.2047-9A>T rs73198154 0.00366
NM_147127.5(EVC2):c.2601C>T (p.Ala867=) rs116514447 0.00357
NM_147127.5(EVC2):c.707-4G>A rs113806963 0.00357
NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn) rs74447004 0.00356
NM_024753.5(TTC21B):c.1571C>G (p.Ser524Cys) rs145436538 0.00355
NM_014714.4(IFT140):c.3711C>T (p.Phe1237=) rs146172074 0.00344
NM_147127.5(EVC2):c.1224C>T (p.Ala408=) rs114629810 0.00334
NM_001377.3(DYNC2H1):c.9939T>C (p.Ala3313=) rs192003811 0.00327
NM_147127.5(EVC2):c.2621G>A (p.Arg874Gln) rs114764023 0.00325
NM_147127.5(EVC2):c.2648C>T (p.Ala883Val) rs140951974 0.00320
NM_147127.5(EVC2):c.864C>T (p.Asn288=) rs144730069 0.00320
NM_147127.5(EVC2):c.1471-7T>C rs150842594 0.00319
NM_153717.3(EVC):c.1127C>T (p.Ala376Val) rs142535134 0.00309
NM_014714.4(IFT140):c.1541T>A (p.Leu514His) rs150903791 0.00297
NM_014714.4(IFT140):c.1542C>A (p.Leu514=) rs141542834 0.00297
NM_014714.4(IFT140):c.2988T>C (p.Asn996=) rs78178397 0.00290
NM_153717.3(EVC):c.*491C>T rs114993332 0.00287
NM_147127.5(EVC2):c.122C>A (p.Pro41His) rs544397395 0.00286
NM_020779.4(WDR35):c.2262C>T (p.Asp754=) rs147206032 0.00285
NM_153717.3(EVC):c.*2692G>T rs149155153 0.00279
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser) rs187546086 0.00275
NM_147127.5(EVC2):c.*207A>G rs73072282 0.00270
NM_147127.5(EVC2):c.3659+8T>C rs200119306 0.00270
NM_020779.4(WDR35):c.2964+12C>T rs113663112 0.00252
NM_025132.4(WDR19):c.-15G>T rs150860929 0.00252
NM_025132.4(WDR19):c.3183+9G>A rs138318063 0.00248
NM_025132.4(WDR19):c.2142+12G>A rs149621476 0.00246
NM_153717.3(EVC):c.532G>A (p.Val178Ile) rs144897690 0.00243
NM_014714.4(IFT140):c.1524+14C>G rs369481491 0.00241
NM_020800.3(IFT80):c.1864G>A (p.Ala622Thr) rs138161346 0.00241
NM_001377.3(DYNC2H1):c.9814T>A (p.Leu3272Ile) rs200342335 0.00236
NM_024753.5(TTC21B):c.1846C>T (p.Arg616Cys) rs139441507 0.00235
NM_020779.4(WDR35):c.1591C>G (p.Leu531Val) rs148242353 0.00233
NM_014714.4(IFT140):c.1831G>A (p.Val611Ile) rs35301526 0.00228
NM_020800.3(IFT80):c.880G>A (p.Val294Ile) rs148926415 0.00224
NM_014714.4(IFT140):c.3874-11C>T rs199887622 0.00220
NM_001199397.3(NEK1):c.975A>G (p.Gly325=) rs150904906 0.00218
NM_001199397.3(NEK1):c.782G>A (p.Arg261His) rs200161705 0.00216
NM_024753.5(TTC21B):c.*1087A>T rs150328867 0.00213
NM_001377.3(DYNC2H1):c.9297T>C (p.Tyr3099=) rs180787556 0.00212
NM_153717.3(EVC):c.1636A>G (p.Met546Val) rs112608085 0.00209
NM_147127.5(EVC2):c.2883A>C (p.Gly961=) rs149188988 0.00205
NM_147127.5(EVC2):c.1462G>A (p.Gly488Ser) rs145277501 0.00203
NM_020779.4(WDR35):c.1524+11C>A rs200213874 0.00201
NM_020779.4(WDR35):c.3121+3G>A rs200042577 0.00199
NM_014714.4(IFT140):c.1336A>G (p.Ile446Val) rs139619013 0.00196
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549 0.00194
NM_001199397.3(NEK1):c.1581T>C (p.Ala527=) rs184804243 0.00188
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946 0.00188
NM_153717.3(EVC):c.934G>A (p.Asp312Asn) rs115275195 0.00171
NM_014714.4(IFT140):c.3993G>C (p.Gln1331His) rs35823417 0.00168
NM_020779.4(WDR35):c.2066G>A (p.Arg689His) rs74470618 0.00168
NM_024753.5(TTC21B):c.2600G>A (p.Arg867His) rs76726265 0.00161
NM_020779.4(WDR35):c.*1681A>G rs188310451 0.00158
NM_001199397.3(NEK1):c.924T>G (p.Ile308Met) rs10034957 0.00151
NM_020779.4(WDR35):c.*601A>G rs182037850 0.00146
NM_020779.4(WDR35):c.1248T>G (p.Ile416Met) rs144701688 0.00145
NM_153717.3(EVC):c.*2493A>G rs188345323 0.00114
NM_014714.4(IFT140):c.-4C>T rs140403660 0.00112
NM_020779.4(WDR35):c.770T>C (p.Val257Ala) rs142955097 0.00095
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro) rs557830930 0.00093
NM_153717.3(EVC):c.*492G>A rs530991301 0.00090
NM_147127.5(EVC2):c.904T>A (p.Phe302Ile) rs138728350 0.00083
NM_147127.5(EVC2):c.913G>T (p.Ala305Ser) rs150367317 0.00083
NM_153717.3(EVC):c.*1976C>T rs56333422 0.00082
NM_014714.4(IFT140):c.*403G>A rs143732634 0.00078
NM_153717.3(EVC):c.*994C>T rs547970729 0.00071
NM_024753.5(TTC21B):c.*847A>C rs138656848 0.00058
NM_025132.4(WDR19):c.3008A>G (p.Glu1003Gly) rs201354264 0.00056
NM_024753.5(TTC21B):c.3797C>T (p.Pro1266Leu) rs140384742 0.00054
NM_024753.5(TTC21B):c.*516C>T rs185578095 0.00047
NM_014714.4(IFT140):c.491+7G>A rs187521755 0.00045
NM_025132.4(WDR19):c.13+15G>A rs150633358 0.00041
NM_153717.3(EVC):c.*2310G>A rs539844915 0.00041
NM_153717.3(EVC):c.1995G>A (p.Ser665=) rs142897994 0.00038
NM_020779.4(WDR35):c.*763T>C rs560228088 0.00036
NM_153717.3(EVC):c.*2125T>G rs139771274 0.00033
NM_025132.4(WDR19):c.2239A>G (p.Ile747Val) rs144335584 0.00031
NM_001199397.3(NEK1):c.*1222T>G rs543801862 0.00028
NM_020779.4(WDR35):c.*807T>C rs555257043 0.00026
NM_014714.4(IFT140):c.*2G>A rs144879630 0.00025
NM_153717.3(EVC):c.2276G>A (p.Ser759Asn) rs201776972 0.00025
NM_001377.3(DYNC2H1):c.4719A>G (p.Gln1573=) rs201016942 0.00021
NM_025132.4(WDR19):c.1595T>C (p.Ile532Thr) rs749672769 0.00019
NM_147127.5(EVC2):c.3413C>T (p.Thr1138Met) rs182298453 0.00019
NM_001199397.3(NEK1):c.-504T>C rs550632789 0.00017
NM_001377.3(DYNC2H1):c.12457-13T>C rs537890566 0.00017
NM_147127.5(EVC2):c.1341C>T (p.Tyr447=) rs186349183 0.00017
NM_001377.3(DYNC2H1):c.5313A>G (p.Val1771=) rs144553338 0.00016
NM_153717.3(EVC):c.2241G>A (p.Ala747=) rs142094016 0.00014
NM_020779.4(WDR35):c.2777A>G (p.Tyr926Cys) rs75602337 0.00013
NM_001006657.2(WDR35):c.1215A>G (p.Thr405=) rs144673252 0.00011
NM_025132.4(WDR19):c.3027C>T (p.Asp1009=) rs181975379 0.00011
NM_153717.3(EVC):c.982C>T (p.Leu328Phe) rs199916502 0.00011
NM_014714.4(IFT140):c.2542C>T (p.Arg848Cys) rs201384469 0.00009
NM_147127.5(EVC2):c.3382C>A (p.Leu1128Met) rs200105743 0.00009
NM_153717.3(EVC):c.1564-6C>T rs188245524 0.00008
NM_001199397.3(NEK1):c.1063A>G (p.Arg355Gly) rs35763578 0.00003
NM_014714.4(IFT140):c.*429C>T rs192256907 0.00003
NM_025132.4(WDR19):c.3722C>T (p.Pro1241Leu) rs576113399 0.00003
NM_153717.3(EVC):c.1313G>A (p.Arg438Gln) rs373718642 0.00002
NM_001199397.3(NEK1):c.2093T>C (p.Met698Thr) rs577165880 0.00001
NM_001199397.3(NEK1):c.2726C>G (p.Ser909Cys) rs543224510 0.00001
NM_024753.5(TTC21B):c.2258C>T (p.Pro753Leu) rs539769126 0.00001
NM_147127.5(EVC2):c.3007G>A (p.Glu1003Lys) rs555666020 0.00001
NM_001377.3(DYNC2H1):c.7540+14G>A rs115273161
NM_001377.3(DYNC2H1):c.7540+14G>T rs115273161
NM_020779.4(WDR35):c.*573A>T rs140069324
NM_020779.4(WDR35):c.*998A>G rs530093062
NM_020800.3(IFT80):c.2224-10del rs58665245
NM_020800.3(IFT80):c.282G>A (p.Lys94=) rs548358266
NM_024753.5(TTC21B):c.2569-10dup rs144600502
NM_147127.5(EVC2):c.3272+8G>A rs201800139
NM_153717.3(EVC):c.*1314G>A rs567979829
NM_153717.3(EVC):c.*1439C>T rs188270163
NM_153717.3(EVC):c.2895-10_2895-9del rs371125826

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.