ClinVar Miner

List of variants studied for X-linked intellectual disability Cabezas type

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ClinVar version:
Total variants: 191
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HGVS dbSNP gnomAD frequency
NM_001079872.2(CUL4B):c.1174-20G>A rs5957408 0.13180
NM_001079872.2(CUL4B):c.1324+15G>A rs143921252 0.01173
NM_001079872.2(CUL4B):c.2634G>A (p.Arg878=) rs143580749 0.00390
NM_001079872.2(CUL4B):c.777-12C>T rs192860595 0.00367
NM_001079872.2(CUL4B):c.2161-15T>G rs183114462 0.00333
NM_001079872.2(CUL4B):c.1257-19T>C rs201629851 0.00205
NM_001079872.2(CUL4B):c.1857C>T (p.Cys619=) rs148700620 0.00099
NM_001079872.2(CUL4B):c.1164A>G (p.Gln388=) rs139239689 0.00040
NM_003588.4(CUL4B):c.65G>A (p.Gly22Asp) rs145808703 0.00021
NM_001079872.2(CUL4B):c.1636+11C>T rs188921315 0.00017
NM_001079872.2(CUL4B):c.1797C>T (p.Val599=) rs751833365 0.00014
NM_001079872.2(CUL4B):c.1962G>A (p.Pro654=) rs185389157 0.00013
NM_003588.4(CUL4B):c.26G>A (p.Gly9Glu) rs149016283 0.00013
NM_001079872.2(CUL4B):c.319C>G (p.Leu107Val) rs760294805 0.00011
NM_003588.4(CUL4B):c.67+10T>C rs992197854 0.00011
NM_001079872.2(CUL4B):c.1853-19G>A rs748410967 0.00008
NM_001079872.2(CUL4B):c.2046+6A>C rs757374498 0.00007
NM_001079872.2(CUL4B):c.776+12A>G rs112085497 0.00006
NM_001079872.2(CUL4B):c.139A>G (p.Ser47Gly) rs145134351 0.00005
NM_001079872.2(CUL4B):c.672+13A>G rs372394678 0.00005
NM_001079872.2(CUL4B):c.776+13A>G rs781274909 0.00005
NM_001079872.2(CUL4B):c.920+9G>A rs375607970 0.00005
NM_001079872.2(CUL4B):c.954T>C (p.Ile318=) rs144312827 0.00005
NM_001079872.2(CUL4B):c.1143T>G (p.Ala381=) rs199575215 0.00004
NM_001079872.2(CUL4B):c.1939-19T>C rs377758630 0.00004
NM_001079872.2(CUL4B):c.2266+4T>A rs747816205 0.00004
NM_001079872.2(CUL4B):c.1305A>T (p.Leu435Phe) rs886043694 0.00003
NM_001079872.2(CUL4B):c.519T>G (p.Pro173=) rs190182456 0.00003
NM_001079872.2(CUL4B):c.573A>G (p.Pro191=) rs776364726 0.00003
NM_001079872.2(CUL4B):c.1083A>G (p.Gln361=) rs1268468467 0.00002
NM_001079872.2(CUL4B):c.1309G>A (p.Ala437Thr) rs757649304 0.00002
NM_001079872.2(CUL4B):c.1674A>G (p.Lys558=) rs1017138439 0.00002
NM_001079872.2(CUL4B):c.1722C>T (p.Ile574=) rs142211300 0.00002
NM_001079872.2(CUL4B):c.1939-4A>G rs1405740580 0.00002
NM_001079872.2(CUL4B):c.341C>G (p.Ala114Gly) rs969827040 0.00002
NM_001079872.2(CUL4B):c.366C>T (p.Ser122=) rs141353300 0.00002
NM_001079872.2(CUL4B):c.904A>G (p.Met302Val) rs904900765 0.00002
NC_000023.11:g.120574548C>T rs779515448 0.00001
NM_001079872.2(CUL4B):c.1071G>A (p.Leu357=) rs985263401 0.00001
NM_001079872.2(CUL4B):c.1130G>A (p.Arg377Gln) rs1428134213 0.00001
NM_001079872.2(CUL4B):c.1201A>C (p.Lys401Gln) rs750866615 0.00001
NM_001079872.2(CUL4B):c.1324+9C>A rs751888920 0.00001
NM_001079872.2(CUL4B):c.1392A>G (p.Arg464=) rs749131350 0.00001
NM_001079872.2(CUL4B):c.1444-4T>G rs766196936 0.00001
NM_001079872.2(CUL4B):c.1651T>A (p.Ser551Thr) rs2147328768 0.00001
NM_001079872.2(CUL4B):c.2023A>G (p.Met675Val) rs768970682 0.00001
NM_001079872.2(CUL4B):c.228A>G (p.Ala76=) rs972696850 0.00001
NM_001079872.2(CUL4B):c.2322T>G (p.Val774=) rs1186093103 0.00001
NM_001079872.2(CUL4B):c.2506A>G (p.Ile836Val) rs1334613409 0.00001
NM_001079872.2(CUL4B):c.2593-18A>C rs1297445532 0.00001
NM_001079872.2(CUL4B):c.270T>C (p.Ala90=) rs371312556 0.00001
NM_001079872.2(CUL4B):c.294G>T (p.Gln98His) rs755306871 0.00001
NM_001079872.2(CUL4B):c.496T>C (p.Ser166Pro) rs748328122 0.00001
NM_001079872.2(CUL4B):c.510C>T (p.Asn170=) rs758768060 0.00001
NM_001079872.2(CUL4B):c.557-11A>G rs776962581 0.00001
NM_001079872.2(CUL4B):c.63A>T (p.Arg21Ser) rs757541076 0.00001
NM_001079872.2(CUL4B):c.69C>T (p.Ala23=) rs1229501675 0.00001
NM_001079872.2(CUL4B):c.777-3C>T rs1467629869 0.00001
NM_001079872.2(CUL4B):c.889G>A (p.Val297Ile) rs367660624 0.00001
NM_001079872.2(CUL4B):c.932T>A (p.Leu311Gln) rs1295817601 0.00001
NM_001079872.2(CUL4B):c.95C>T (p.Pro32Leu) rs869320682 0.00001
NC_000023.10:g.(119681095_119691778)_(119694481_119708405)del
NC_000023.10:g.(?_117629935)_(119761021_?)del
NC_000023.11:g.120574589T>C
NC_000023.11:g.120574613A>G rs2521247234
NM_001079872.2(CUL4B):c.1007_1011del (p.Ile336fs)
NM_001079872.2(CUL4B):c.1030G>A (p.Ala344Thr) rs765400948
NM_001079872.2(CUL4B):c.1044T>C (p.Ser348=) rs1924202904
NM_001079872.2(CUL4B):c.1106A>G (p.Gln369Arg) rs1556213268
NM_001079872.2(CUL4B):c.1107A>G (p.Gln369=)
NM_001079872.2(CUL4B):c.1108C>T (p.Arg370Ter) rs121434616
NM_001079872.2(CUL4B):c.1157T>C (p.Leu386Ser) rs1300720472
NM_001079872.2(CUL4B):c.1173+16G>A rs2521120464
NM_001079872.2(CUL4B):c.1201_1204del (p.Lys401fs)
NM_001079872.2(CUL4B):c.1256+18A>T rs2521118363
NM_001079872.2(CUL4B):c.1256+5G>A
NM_001079872.2(CUL4B):c.1257-9del rs746854249
NM_001079872.2(CUL4B):c.1257-9dup rs746854249
NM_001079872.2(CUL4B):c.1292T>C (p.Leu431Pro)
NM_001079872.2(CUL4B):c.1308A>G (p.Thr436=) rs767678634
NM_001079872.2(CUL4B):c.1338C>A (p.Leu446=)
NM_001079872.2(CUL4B):c.1356T>G (p.Ile452Met)
NM_001079872.2(CUL4B):c.1386del (p.Phe462fs) rs1602577238
NM_001079872.2(CUL4B):c.1389T>C (p.Ser463=) rs2521106591
NM_001079872.2(CUL4B):c.1396C>A (p.Arg466=)
NM_001079872.2(CUL4B):c.1396C>T (p.Arg466Ter) rs905353542
NM_001079872.2(CUL4B):c.1399G>T (p.Gly467Cys) rs2521106499
NM_001079872.2(CUL4B):c.1404_1405del (p.Val469fs) rs1556206910
NM_001079872.2(CUL4B):c.141CAG[3] (p.Ser49_Asn50insSer) rs2521200675
NM_001079872.2(CUL4B):c.1423del (p.Gln475fs) rs2521106352
NM_001079872.2(CUL4B):c.1428G>A (p.Trp476Ter) rs1924000101
NM_001079872.2(CUL4B):c.1444-1G>A rs2521100200
NM_001079872.2(CUL4B):c.1452C>G (p.Gly484=) rs1464061635
NM_001079872.2(CUL4B):c.1480G>A (p.Asp494Asn) rs2147329944
NM_001079872.2(CUL4B):c.1588T>C (p.Phe530Leu) rs1923920343
NM_001079872.2(CUL4B):c.1598T>G (p.Phe533Cys) rs1923919394
NM_001079872.2(CUL4B):c.15T>C (p.Gly5=) rs2521201964
NM_001079872.2(CUL4B):c.1637-13T>C
NM_001079872.2(CUL4B):c.1637-3T>A
NM_001079872.2(CUL4B):c.164G>A (p.Arg55Lys) rs2147350219
NM_001079872.2(CUL4B):c.1660C>T (p.Arg554Cys) rs121434615
NM_001079872.2(CUL4B):c.1682_1683del (p.Thr561fs) rs1057519396
NM_001079872.2(CUL4B):c.1738T>C (p.Tyr580His) rs1923849803
NM_001079872.2(CUL4B):c.1741+4_1741+7del rs1569389364
NM_001079872.2(CUL4B):c.1742-2A>G
NM_001079872.2(CUL4B):c.1743C>T (p.Gly581=) rs1365805546
NM_001079872.2(CUL4B):c.1747G>T (p.Asp583Tyr) rs2521090323
NM_001079872.2(CUL4B):c.1786C>T (p.Arg596Cys) rs1556200641
NM_001079872.2(CUL4B):c.181_182del (p.Thr61fs) rs2521200386
NM_001079872.2(CUL4B):c.1835T>C (p.Leu612Pro) rs2147328180
NM_001079872.2(CUL4B):c.1844T>G (p.Leu615Arg)
NM_001079872.2(CUL4B):c.1852+1G>T rs797044862
NM_001079872.2(CUL4B):c.1852+3A>G rs2521089667
NM_001079872.2(CUL4B):c.1852G>C (p.Glu618Gln)
NM_001079872.2(CUL4B):c.1853-13A>G rs896412935
NM_001079872.2(CUL4B):c.188C>T (p.Ser63Phe) rs1249285278
NM_001079872.2(CUL4B):c.1970T>C (p.Ile657Thr)
NM_001079872.2(CUL4B):c.197C>A (p.Ser66Tyr) rs2521200222
NM_001079872.2(CUL4B):c.2047-3T>C
NM_001079872.2(CUL4B):c.2092C>T (p.His698Tyr) rs2147325555
NM_001079872.2(CUL4B):c.2118G>A (p.Gln706=) rs2521075353
NM_001079872.2(CUL4B):c.2160+8G>A rs2521075055
NM_001079872.2(CUL4B):c.2161-15T>C rs183114462
NM_001079872.2(CUL4B):c.2161-5_2161-4delinsTG
NM_001079872.2(CUL4B):c.220G>A (p.Asp74Asn) rs2521200022
NM_001079872.2(CUL4B):c.224C>T (p.Ser75Leu) rs747997744
NM_001079872.2(CUL4B):c.2258C>T (p.Thr753Ile)
NM_001079872.2(CUL4B):c.2264_2265dup (p.Glu756Ter) rs2521066233
NM_001079872.2(CUL4B):c.2280A>G (p.Leu760=)
NM_001079872.2(CUL4B):c.2290C>T (p.Leu764=) rs2521057313
NM_001079872.2(CUL4B):c.2327C>T (p.Ala776Val)
NM_001079872.2(CUL4B):c.2356G>A (p.Asp786Asn) rs2521057088
NM_001079872.2(CUL4B):c.2390A>T (p.Lys797Ile) rs2521056927
NM_001079872.2(CUL4B):c.2394_2395del (p.His798fs)
NM_001079872.2(CUL4B):c.2403del (p.Phe801fs)
NM_001079872.2(CUL4B):c.2404A>T (p.Arg802Trp) rs2521056843
NM_001079872.2(CUL4B):c.2439+11C>A rs1923372277
NM_001079872.2(CUL4B):c.2439G>A (p.Thr813=) rs2147321510
NM_001079872.2(CUL4B):c.243G>T (p.Ser81=) rs1478158662
NM_001079872.2(CUL4B):c.2523G>C (p.Lys841Asn) rs1556181426
NM_001079872.2(CUL4B):c.2576_2588del (p.Gln858_Leu859insTer) rs2521046077
NM_001079872.2(CUL4B):c.2592+3A>T rs2521046044
NM_001079872.2(CUL4B):c.2593-16T>C
NM_001079872.2(CUL4B):c.2650G>A (p.Asp884Asn) rs1922994124
NM_001079872.2(CUL4B):c.2652T>G (p.Asp884Glu) rs768424127
NM_001079872.2(CUL4B):c.2677dup (p.Tyr893fs) rs2147314730
NM_001079872.2(CUL4B):c.279C>A (p.Ser93Arg) rs2521199474
NM_001079872.2(CUL4B):c.307T>C (p.Phe103Leu) rs2521199047
NM_001079872.2(CUL4B):c.355G>T (p.Glu119Ter) rs2521198629
NM_001079872.2(CUL4B):c.360CTC[3] (p.Ser126_Ser128del) rs754330779
NM_001079872.2(CUL4B):c.360CTC[5] (p.Ser128del) rs754330779
NM_001079872.2(CUL4B):c.360CTC[7] (p.Ser128dup) rs754330779
NM_001079872.2(CUL4B):c.378A>C (p.Ser126=) rs1022353335
NM_001079872.2(CUL4B):c.37GCT[6] (p.Ala17dup) rs746690704
NM_001079872.2(CUL4B):c.43G>A (p.Ala15Thr) rs1925231122
NM_001079872.2(CUL4B):c.481TCT[1] (p.Ser162del) rs2521197676
NM_001079872.2(CUL4B):c.516del (p.Lys172fs) rs2521197429
NM_001079872.2(CUL4B):c.53A>G (p.Gln18Arg) rs1199433297
NM_001079872.2(CUL4B):c.556+9G>C rs1352392886
NM_001079872.2(CUL4B):c.557-20A>G
NM_001079872.2(CUL4B):c.672+18T>C rs1925074883
NM_001079872.2(CUL4B):c.673-10A>G
NM_001079872.2(CUL4B):c.695A>T (p.Tyr232Phe) rs2521136592
NM_001079872.2(CUL4B):c.695dup (p.Tyr232Ter) rs2521136612
NM_001079872.2(CUL4B):c.721C>T (p.Gln241Ter) rs1556220623
NM_001079872.2(CUL4B):c.723_748del (p.Gln241fs)
NM_001079872.2(CUL4B):c.747C>T (p.His249=)
NM_001079872.2(CUL4B):c.76G>A (p.Gly26Ser) rs2521201303
NM_001079872.2(CUL4B):c.776+7dup rs200461872
NM_001079872.2(CUL4B):c.777-11A>G rs1924348219
NM_001079872.2(CUL4B):c.783A>G (p.Ser261=) rs113566433
NM_001079872.2(CUL4B):c.784T>A (p.Leu262Met) rs1379343211
NM_001079872.2(CUL4B):c.811A>T (p.Ile271Phe) rs2521133019
NM_001079872.2(CUL4B):c.819A>G (p.Arg273=) rs778579288
NM_001079872.2(CUL4B):c.843A>G (p.Gln281=)
NM_001079872.2(CUL4B):c.847-10del rs762094686
NM_001079872.2(CUL4B):c.847-2A>G rs786200913
NM_001079872.2(CUL4B):c.881G>T (p.Arg294Ile) rs866840262
NM_001079872.2(CUL4B):c.90C>T (p.Thr30=)
NM_001079872.2(CUL4B):c.911C>T (p.Pro304Leu) rs1401095244
NM_001079872.2(CUL4B):c.921_923delinsACC (p.Trp307_Asp308delinsTer) rs2521124270
NM_001079872.2(CUL4B):c.925A>T (p.Met309Leu) rs768363837
NM_001079872.2(CUL4B):c.926T>C (p.Met309Thr)
NM_001079872.2(CUL4B):c.951TAT[1] (p.Ile319del) rs1556214312
NM_001079872.2(CUL4B):c.953_957del (p.Ile318fs) rs1085307760
NM_001079872.2(CUL4B):c.984A>G (p.Thr328=) rs2521123725
NM_001079872.2(CUL4B):c.986T>C (p.Ile329Thr) rs2521123687
NM_001079872.2(CUL4B):c.988G>C (p.Asp330His) rs2521123668
NM_001079872.2(CUL4B):c.995T>C (p.Ile332Thr) rs1924204795
NM_003588.4(CUL4B):c.29A>C (p.Asp10Ala) rs2147360370
NM_003588.4(CUL4B):c.46G>C (p.Ala16Pro) rs2521247101

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