ClinVar Miner

List of variants studied for Koolen de Vries syndrome by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 249
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HGVS dbSNP
NC_000017.10:g.(?_44108822)_(44128090_?)dup
NC_000017.11:g.(?_46031456)_(46067687_?)dup
NC_000017.11:g.(?_46031456)_(46082562_?)del
NM_001193466.2(KANSL1):c.1000A>G (p.Asn334Asp) rs112150341
NM_001193466.2(KANSL1):c.1021C>T (p.Arg341Trp) rs373918467
NM_001193466.2(KANSL1):c.103G>A (p.Glu35Lys) rs369793673
NM_001193466.2(KANSL1):c.1042C>G (p.Arg348Gly)
NM_001193466.2(KANSL1):c.1046del (p.Lys349fs) rs1567761585
NM_001193466.2(KANSL1):c.1075A>C (p.Ser359Arg) rs1309097254
NM_001193466.2(KANSL1):c.1093G>A (p.Glu365Lys)
NM_001193466.2(KANSL1):c.1106A>G (p.Asn369Ser) rs139564524
NM_001193466.2(KANSL1):c.1116A>G (p.Lys372=) rs62639965
NM_001193466.2(KANSL1):c.1118G>C (p.Ser373Thr) rs747621748
NM_001193466.2(KANSL1):c.1124C>T (p.Ser375Leu) rs142696045
NM_001193466.2(KANSL1):c.1126A>G (p.Ile376Val) rs754713192
NM_001193466.2(KANSL1):c.1141G>C (p.Glu381Gln) rs779968528
NM_001193466.2(KANSL1):c.1155T>G (p.Ala385=) rs1597870775
NM_001193466.2(KANSL1):c.1157G>T (p.Ser386Ile) rs143589497
NM_001193466.2(KANSL1):c.116A>C (p.Asn39Thr) rs1060502199
NM_001193466.2(KANSL1):c.116A>G (p.Asn39Ser) rs1060502199
NM_001193466.2(KANSL1):c.1185A>G (p.Glu395=) rs199820469
NM_001193466.2(KANSL1):c.1187A>T (p.Gln396Leu) rs149302199
NM_001193466.2(KANSL1):c.118G>A (p.Ala40Thr) rs376632173
NM_001193466.2(KANSL1):c.122A>G (p.Asn41Ser) rs142587760
NM_001193466.2(KANSL1):c.1230G>A (p.Glu410=) rs777308407
NM_001193466.2(KANSL1):c.1256C>G (p.Thr419Ser) rs1597870423
NM_001193466.2(KANSL1):c.1265A>T (p.Asp422Val) rs191058987
NM_001193466.2(KANSL1):c.1270G>A (p.Glu424Lys) rs780942888
NM_001193466.2(KANSL1):c.1276C>T (p.Arg426Cys) rs757224600
NM_001193466.2(KANSL1):c.1277G>C (p.Arg426Pro) rs764291274
NM_001193466.2(KANSL1):c.1280A>G (p.His427Arg)
NM_001193466.2(KANSL1):c.1285C>A (p.Pro429Thr) rs142062936
NM_001193466.2(KANSL1):c.1289+3G>A
NM_001193466.2(KANSL1):c.1289+3_1289+5del rs1597870189
NM_001193466.2(KANSL1):c.12G>A (p.Met4Ile) rs146472353
NM_001193466.2(KANSL1):c.1318G>A (p.Ala440Thr) rs1240185267
NM_001193466.2(KANSL1):c.1402G>C (p.Asp468His) rs745576981
NM_001193466.2(KANSL1):c.1423G>A (p.Ala475Thr) rs547462953
NM_001193466.2(KANSL1):c.1564C>T (p.His522Tyr) rs1598530886
NM_001193466.2(KANSL1):c.1565A>G (p.His522Arg) rs587625643
NM_001193466.2(KANSL1):c.1568G>C (p.Gly523Ala) rs1568411157
NM_001193466.2(KANSL1):c.1574C>G (p.Pro525Arg) rs144838667
NM_001193466.2(KANSL1):c.1590T>A (p.Ile530=) rs151329554
NM_001193466.2(KANSL1):c.1599A>G (p.Ser533=) rs1555746340
NM_001193466.2(KANSL1):c.1600C>G (p.Leu534Val)
NM_001193466.2(KANSL1):c.1605T>C (p.Ser535=) rs200561483
NM_001193466.2(KANSL1):c.1613C>T (p.Ser538Leu) rs142435060
NM_001193466.2(KANSL1):c.1616G>A (p.Cys539Tyr) rs776741181
NM_001193466.2(KANSL1):c.1625T>A (p.Leu542His) rs796052593
NM_001193466.2(KANSL1):c.164C>T (p.Ala55Val) rs1213319847
NM_001193466.2(KANSL1):c.1652C>T (p.Thr551Ile) rs778178483
NM_001193466.2(KANSL1):c.1653-10C>G rs199642265
NM_001193466.2(KANSL1):c.1673A>T (p.Asp558Val) rs551923672
NM_001193466.2(KANSL1):c.1689C>T (p.Asp563=) rs113557856
NM_001193466.2(KANSL1):c.1714C>T (p.His572Tyr) rs759587635
NM_001193466.2(KANSL1):c.1738G>A (p.Val580Ile) rs117412152
NM_001193466.2(KANSL1):c.1751C>T (p.Ser584Phe) rs544459109
NM_001193466.2(KANSL1):c.1774C>T (p.Arg592Trp) rs774841964
NM_001193466.2(KANSL1):c.1781G>C (p.Arg594Pro) rs1057520691
NM_001193466.2(KANSL1):c.181C>A (p.Leu61Ile) rs1567764831
NM_001193466.2(KANSL1):c.1826G>A (p.Ser609Asn) rs138698439
NM_001193466.2(KANSL1):c.1830C>A (p.Ile610=) rs150800846
NM_001193466.2(KANSL1):c.1831G>A (p.Val611Ile) rs202150313
NM_001193466.2(KANSL1):c.1848+4G>A rs766458949
NM_001193466.2(KANSL1):c.1855C>T (p.Arg619Trp) rs141298741
NM_001193466.2(KANSL1):c.1857G>T (p.Arg619=) rs191986791
NM_001193466.2(KANSL1):c.1859A>C (p.Asn620Thr) rs200979425
NM_001193466.2(KANSL1):c.1864A>G (p.Thr622Ala)
NM_001193466.2(KANSL1):c.1867A>G (p.Ile623Val)
NM_001193466.2(KANSL1):c.1870C>T (p.Arg624Cys) rs368180304
NM_001193466.2(KANSL1):c.1900G>A (p.Ala634Thr) rs145938212
NM_001193466.2(KANSL1):c.1902A>G (p.Ala634=) rs757691368
NM_001193466.2(KANSL1):c.1938C>T (p.Pro646=) rs371047711
NM_001193466.2(KANSL1):c.1949A>G (p.Tyr650Cys) rs777228945
NM_001193466.2(KANSL1):c.1970G>A (p.Arg657His)
NM_001193466.2(KANSL1):c.1989T>C (p.Ser663=) rs368175458
NM_001193466.2(KANSL1):c.2033G>A (p.Ser678Asn) rs1555734253
NM_001193466.2(KANSL1):c.2095C>T (p.Pro699Ser)
NM_001193466.2(KANSL1):c.2106G>C (p.Lys702Asn) rs371108710
NM_001193466.2(KANSL1):c.2109A>G (p.Leu703=) rs34101027
NM_001193466.2(KANSL1):c.2109A>T (p.Leu703Phe) rs34101027
NM_001193466.2(KANSL1):c.2110T>C (p.Ser704Pro) rs202231419
NM_001193466.2(KANSL1):c.2132dup (p.Met711fs) rs1555734136
NM_001193466.2(KANSL1):c.2135C>T (p.Pro712Leu) rs549189483
NM_001193466.2(KANSL1):c.2159G>A (p.Arg720His) rs148825937
NM_001193466.2(KANSL1):c.2190C>T (p.Phe730=) rs145434865
NM_001193466.2(KANSL1):c.2194A>G (p.Thr732Ala) rs1036089094
NM_001193466.2(KANSL1):c.2224C>T (p.Arg742Trp) rs150282556
NM_001193466.2(KANSL1):c.2230G>C (p.Asp744His) rs200103894
NM_001193466.2(KANSL1):c.2264G>A (p.Gly755Glu)
NM_001193466.2(KANSL1):c.2268C>T (p.Ala756=) rs530885936
NM_001193466.2(KANSL1):c.2294C>T (p.Ala765Val) rs151099014
NM_001193466.2(KANSL1):c.2298A>G (p.Pro766=) rs367624499
NM_001193466.2(KANSL1):c.2308C>T (p.Arg770Cys)
NM_001193466.2(KANSL1):c.2322A>G (p.Pro774=) rs765777662
NM_001193466.2(KANSL1):c.2331C>T (p.Pro777=) rs139663254
NM_001193466.2(KANSL1):c.2332G>C (p.Val778Leu)
NM_001193466.2(KANSL1):c.2377T>A (p.Ser793Thr)
NM_001193466.2(KANSL1):c.2392+3A>T rs1568374384
NM_001193466.2(KANSL1):c.2406C>A (p.His802Gln) rs773681267
NM_001193466.2(KANSL1):c.2414T>C (p.Met805Thr) rs201526313
NM_001193466.2(KANSL1):c.2417G>A (p.Ser806Asn)
NM_001193466.2(KANSL1):c.2441C>G (p.Thr814Ser) rs757031050
NM_001193466.2(KANSL1):c.2464T>G (p.Leu822Val) rs754877424
NM_001193466.2(KANSL1):c.2481C>T (p.Ser827=) rs143653891
NM_001193466.2(KANSL1):c.2484_2486CTC[1] (p.Ser830del)
NM_001193466.2(KANSL1):c.2503C>T (p.Pro835Ser) rs1555733519
NM_001193466.2(KANSL1):c.2506G>A (p.Ala836Thr) rs935626079
NM_001193466.2(KANSL1):c.2510G>T (p.Ser837Ile)
NM_001193466.2(KANSL1):c.2524G>A (p.Val842Ile) rs758243969
NM_001193466.2(KANSL1):c.2628C>T (p.Arg876=) rs149756887
NM_001193466.2(KANSL1):c.2640G>A (p.Leu880=) rs773932947
NM_001193466.2(KANSL1):c.2643A>G (p.Gln881=) rs749039030
NM_001193466.2(KANSL1):c.2677G>A (p.Val893Ile) rs1057523139
NM_001193466.2(KANSL1):c.2683C>G (p.Leu895Val) rs555819683
NM_001193466.2(KANSL1):c.2698G>A (p.Gly900Arg) rs74867664
NM_001193466.2(KANSL1):c.2710_2712GAG[1] (p.Glu905del) rs551968687
NM_001193466.2(KANSL1):c.2718T>G (p.Asn906Lys) rs139615350
NM_001193466.2(KANSL1):c.2725-7A>G rs186818985
NM_001193466.2(KANSL1):c.2755G>A (p.Ala919Thr) rs776547113
NM_001193466.2(KANSL1):c.277A>G (p.Lys93Glu) rs752219095
NM_001193466.2(KANSL1):c.2808G>A (p.Thr936=) rs372559911
NM_001193466.2(KANSL1):c.2838-6G>T rs1555730956
NM_001193466.2(KANSL1):c.286T>C (p.Leu96=) rs140268765
NM_001193466.2(KANSL1):c.2893T>C (p.Ser965Pro) rs1291308469
NM_001193466.2(KANSL1):c.2897C>T (p.Thr966Ile) rs763252158
NM_001193466.2(KANSL1):c.2913C>A (p.Ser971=) rs781514778
NM_001193466.2(KANSL1):c.2949C>T (p.Tyr983=) rs146848167
NM_001193466.2(KANSL1):c.296A>G (p.Gln99Arg) rs754727332
NM_001193466.2(KANSL1):c.297A>G (p.Gln99=) rs34801822
NM_001193466.2(KANSL1):c.2984C>T (p.Pro995Leu) rs761819132
NM_001193466.2(KANSL1):c.298G>C (p.Gly100Arg)
NM_001193466.2(KANSL1):c.3002C>T (p.Pro1001Leu) rs1037585739
NM_001193466.2(KANSL1):c.301G>A (p.Val101Ile)
NM_001193466.2(KANSL1):c.3030G>A (p.Pro1010=) rs748843892
NM_001193466.2(KANSL1):c.3038T>C (p.Leu1013Ser) rs138490347
NM_001193466.2(KANSL1):c.3053C>A (p.Thr1018Asn) rs145863194
NM_001193466.2(KANSL1):c.3053C>T (p.Thr1018Ile) rs145863194
NM_001193466.2(KANSL1):c.3056G>A (p.Arg1019His) rs781056926
NM_001193466.2(KANSL1):c.3091-3C>T rs374360315
NM_001193466.2(KANSL1):c.3094G>C (p.Val1032Leu)
NM_001193466.2(KANSL1):c.30C>T (p.Asp10=) rs200649587
NM_001193466.2(KANSL1):c.3110G>A (p.Arg1037Gln)
NM_001193466.2(KANSL1):c.3116C>T (p.Thr1039Ile) rs1444239074
NM_001193466.2(KANSL1):c.3128C>T (p.Ala1043Val) rs1194713411
NM_001193466.2(KANSL1):c.3143C>T (p.Ala1048Val) rs200719065
NM_001193466.2(KANSL1):c.3146A>G (p.Glu1049Gly) rs771796347
NM_001193466.2(KANSL1):c.3154G>A (p.Asp1052Asn) rs1037675968
NM_001193466.2(KANSL1):c.316A>G (p.Thr106Ala) rs371450753
NM_001193466.2(KANSL1):c.3170A>G (p.Gln1057Arg) rs201083879
NM_001193466.2(KANSL1):c.3184C>T (p.Arg1062Cys)
NM_001193466.2(KANSL1):c.3185G>A (p.Arg1062His) rs768018906
NM_001193466.2(KANSL1):c.3236C>T (p.Ala1079Val) rs370112084
NM_001193466.2(KANSL1):c.3245C>T (p.Ser1082Leu) rs749241540
NM_001193466.2(KANSL1):c.3272G>A (p.Arg1091Gln) rs752029022
NM_001193466.2(KANSL1):c.3275A>G (p.His1092Arg)
NM_001193466.2(KANSL1):c.3279G>T (p.Leu1093=) rs1404523701
NM_001193466.2(KANSL1):c.327A>G (p.Lys109=) rs749575109
NM_001193466.2(KANSL1):c.3306G>A (p.Pro1102=) rs143746890
NM_001193466.2(KANSL1):c.362G>A (p.Arg121Gln)
NM_001193466.2(KANSL1):c.388G>A (p.Val130Ile) rs766000368
NM_001193466.2(KANSL1):c.392T>G (p.Leu131Trp) rs1486873707
NM_001193466.2(KANSL1):c.406G>C (p.Glu136Gln)
NM_001193466.2(KANSL1):c.442G>A (p.Ala148Thr)
NM_001193466.2(KANSL1):c.468G>C (p.Gly156=) rs150877831
NM_001193466.2(KANSL1):c.477G>T (p.Lys159Asn) rs188294801
NM_001193466.2(KANSL1):c.494C>T (p.Ser165Leu)
NM_001193466.2(KANSL1):c.498A>C (p.Thr166=) rs141491325
NM_001193466.2(KANSL1):c.500A>G (p.His167Arg) rs779594202
NM_001193466.2(KANSL1):c.509A>G (p.His170Arg)
NM_001193466.2(KANSL1):c.525C>T (p.Ser175=) rs148321376
NM_001193466.2(KANSL1):c.530A>G (p.Asn177Ser) rs765213873
NM_001193466.2(KANSL1):c.531T>C (p.Asn177=) rs759846708
NM_001193466.2(KANSL1):c.53T>C (p.Ile18Thr) rs1060502198
NM_001193466.2(KANSL1):c.541C>T (p.Arg181Trp) rs375225315
NM_001193466.2(KANSL1):c.542G>A (p.Arg181Gln) rs771481251
NM_001193466.2(KANSL1):c.551C>A (p.Thr184Asn) rs1366986871
NM_001193466.2(KANSL1):c.55C>T (p.Arg19Trp)
NM_001193466.2(KANSL1):c.571G>T (p.Gly191Cys) rs149566146
NM_001193466.2(KANSL1):c.584G>A (p.Gly195Glu) rs757048501
NM_001193466.2(KANSL1):c.607G>C (p.Gly203Arg) rs138175526
NM_001193466.2(KANSL1):c.613A>T (p.Met205Leu)
NM_001193466.2(KANSL1):c.619A>G (p.Asn207Asp) rs372601814
NM_001193466.2(KANSL1):c.620A>G (p.Asn207Ser) rs144882998
NM_001193466.2(KANSL1):c.620A>T (p.Asn207Ile) rs144882998
NM_001193466.2(KANSL1):c.625A>G (p.Thr209Ala) rs1301400639
NM_001193466.2(KANSL1):c.635A>G (p.His212Arg) rs141110759
NM_001193466.2(KANSL1):c.641G>A (p.Ser214Asn) rs746645554
NM_001193466.2(KANSL1):c.658A>C (p.Thr220Pro)
NM_001193466.2(KANSL1):c.674A>G (p.Asn225Ser)
NM_001193466.2(KANSL1):c.680G>A (p.Ser227Asn) rs150345690
NM_001193466.2(KANSL1):c.680G>T (p.Ser227Ile) rs150345690
NM_001193466.2(KANSL1):c.688A>G (p.Asn230Asp) rs34756740
NM_001193466.2(KANSL1):c.701T>C (p.Val234Ala) rs199948200
NM_001193466.2(KANSL1):c.702C>A (p.Val234=) rs1057521846
NM_001193466.2(KANSL1):c.719C>T (p.Pro240Leu) rs767565501
NM_001193466.2(KANSL1):c.727C>A (p.Gln243Lys) rs142096969
NM_001193466.2(KANSL1):c.736A>G (p.Ser246Gly) rs141969887
NM_001193466.2(KANSL1):c.73C>G (p.Pro25Ala)
NM_001193466.2(KANSL1):c.740G>A (p.Arg247Lys)
NM_001193466.2(KANSL1):c.767C>T (p.Ser256Phe) rs537773238
NM_001193466.2(KANSL1):c.773T>C (p.Leu258Ser) rs145714368
NM_001193466.2(KANSL1):c.779G>T (p.Gly260Val) rs758752787
NM_001193466.2(KANSL1):c.783C>G (p.Val261=) rs1555575518
NM_001193466.2(KANSL1):c.800A>G (p.Lys267Arg) rs140181991
NM_001193466.2(KANSL1):c.802T>C (p.Ser268Pro) rs767021119
NM_001193466.2(KANSL1):c.805C>T (p.Pro269Ser) rs200903841
NM_001193466.2(KANSL1):c.808_809del (p.Leu270fs) rs551541795
NM_001193466.2(KANSL1):c.812C>T (p.Ser271Phe) rs1597872380
NM_001193466.2(KANSL1):c.823T>C (p.Phe275Leu) rs1567762510
NM_001193466.2(KANSL1):c.836A>T (p.Asp279Val) rs1567762446
NM_001193466.2(KANSL1):c.843C>T (p.Asp281=) rs753023870
NM_001193466.2(KANSL1):c.849G>A (p.Arg283=) rs754362361
NM_001193466.2(KANSL1):c.850A>G (p.Ile284Val)
NM_001193466.2(KANSL1):c.865C>T (p.Arg289Trp)
NM_001193466.2(KANSL1):c.869G>A (p.Arg290Gln)
NM_001193466.2(KANSL1):c.887G>A (p.Ser296Asn)
NM_001193466.2(KANSL1):c.889C>T (p.Arg297Cys) rs772236084
NM_001193466.2(KANSL1):c.907A>G (p.Lys303Glu) rs1263813959
NM_001193466.2(KANSL1):c.913T>C (p.Leu305=) rs751030588
NM_001193466.2(KANSL1):c.932A>G (p.Lys311Arg) rs1555575305
NM_001193466.2(KANSL1):c.942G>C (p.Glu314Asp)
NM_001193466.2(KANSL1):c.949A>G (p.Ile317Val) rs139843442
NM_001193466.2(KANSL1):c.951A>G (p.Ile317Met)
NM_001193466.2(KANSL1):c.963G>A (p.Leu321=) rs772111208
NM_015443.4(KANSL1):c.166G>A (p.Ala56Thr)
NM_015443.4(KANSL1):c.1768_1769delinsAG (p.Ala590Arg)
NM_015443.4(KANSL1):c.1848+3C>T
NM_015443.4(KANSL1):c.2021-3C>T
NM_015443.4(KANSL1):c.202A>G (p.Thr68Ala)
NM_015443.4(KANSL1):c.2126C>G (p.Ala709Gly)
NM_015443.4(KANSL1):c.2444A>G (p.His815Arg)
NM_015443.4(KANSL1):c.2724+5T>G
NM_015443.4(KANSL1):c.2743G>A (p.Ala915Thr)
NM_015443.4(KANSL1):c.2792G>A (p.Arg931Gln)
NM_015443.4(KANSL1):c.2837+2T>C
NM_015443.4(KANSL1):c.3025A>C (p.Thr1009Pro)
NM_015443.4(KANSL1):c.3031C>T (p.Arg1011Ter)
NM_015443.4(KANSL1):c.3175C>G (p.Arg1059Gly)
NM_015443.4(KANSL1):c.3289G>C (p.Ala1097Pro)
NM_015443.4(KANSL1):c.455C>T (p.Ala152Val)
NM_015443.4(KANSL1):c.631C>G (p.Pro211Ala)
NM_015443.4(KANSL1):c.647A>T (p.Asp216Val)
NM_015443.4(KANSL1):c.658A>T (p.Thr220Ser)
NM_015443.4(KANSL1):c.677A>G (p.Asn226Ser)
NM_015443.4(KANSL1):c.695C>A (p.Ser232Tyr)
NM_015443.4(KANSL1):c.709A>G (p.Met237Val)
NM_015443.4(KANSL1):c.898A>G (p.Arg300Gly)
NM_015443.4(KANSL1):c.992A>G (p.Lys331Arg)

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