ClinVar Miner

List of variants in gene KANSL1 studied for Koolen de Vries syndrome

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 173
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HGVS dbSNP
NC_000017.10:g.(?_44108822)_(44128090_?)dup
NC_000017.10:g.(?_44108822)_(44159928_?)del
NM_001193466.2(KANSL1):c.103G>A (p.Glu35Lys) rs369793673
NM_001193466.2(KANSL1):c.1046del (p.Lys349fs) rs1567761585
NM_001193466.2(KANSL1):c.1075A>C (p.Ser359Arg) rs1309097254
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.1124C>T (p.Ser375Leu) rs142696045
NM_001193466.2(KANSL1):c.112G>A (p.Gly38Ser) rs770738115
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.1189G>A (p.Ala397Thr) rs138565467
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)
NM_001193466.2(KANSL1):c.1265A>T (p.Asp422Val) rs191058987
NM_001193466.2(KANSL1):c.1269C>T (p.Pro423=) rs750165871
NM_001193466.2(KANSL1):c.1277G>C (p.Arg426Pro) rs764291274
NM_001193466.2(KANSL1):c.1285C>A (p.Pro429Thr) rs142062936
NM_001193466.2(KANSL1):c.1289+3_1289+5del
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.1463dup (p.Glu489fs) rs1555753569
NM_001193466.2(KANSL1):c.1564C>T (p.His522Tyr)
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.1605T>C (p.Ser535=) rs200561483
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.1648A>G (p.Asn550Asp) rs1555746270
NM_001193466.2(KANSL1):c.164C>T (p.Ala55Val) rs1213319847
NM_001193466.2(KANSL1):c.1652+1G>A rs281865470
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)
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.1816C>T (p.Arg606Ter) rs281865469
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.1831G>A (p.Val611Ile) rs202150313
NM_001193466.2(KANSL1):c.1848+4G>A
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.1867_1870del (p.Ile623fs) rs281865472
NM_001193466.2(KANSL1):c.1870C>T (p.Arg624Cys)
NM_001193466.2(KANSL1):c.1900G>A (p.Ala634Thr) rs145938212
NM_001193466.2(KANSL1):c.1938C>T (p.Pro646=) rs371047711
NM_001193466.2(KANSL1):c.1949A>G (p.Tyr650Cys)
NM_001193466.2(KANSL1):c.1989T>C (p.Ser663=) rs368175458
NM_001193466.2(KANSL1):c.19G>A (p.Ala7Thr) rs768152581
NM_001193466.2(KANSL1):c.2033G>A (p.Ser678Asn) rs1555734253
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)
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.2194A>G (p.Thr732Ala) rs1036089094
NM_001193466.2(KANSL1):c.2230G>C (p.Asp744His) rs200103894
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.2322A>G (p.Pro774=) rs765777662
NM_001193466.2(KANSL1):c.2331C>T (p.Pro777=) rs139663254
NM_001193466.2(KANSL1):c.2392+3A>T rs1568374384
NM_001193466.2(KANSL1):c.2406C>A (p.His802Gln)
NM_001193466.2(KANSL1):c.2414T>C (p.Met805Thr) rs201526313
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.2502A>G (p.Ala834=) rs749802464
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.2541G>A (p.Ser847=) rs200079722
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.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.277A>G (p.Lys93Glu)
NM_001193466.2(KANSL1):c.2783_2784AG[1] (p.Arg929fs) rs281865471
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.2938_2939del (p.Leu980fs) rs1568366050
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.3038T>C (p.Leu1013Ser) rs138490347
NM_001193466.2(KANSL1):c.3050A>C (p.Asp1017Ala) rs1568365844
NM_001193466.2(KANSL1):c.3053C>A (p.Thr1018Asn)
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.3116C>T (p.Thr1039Ile) rs1444239074
NM_001193466.2(KANSL1):c.3125del (p.Leu1042fs) rs797045049
NM_001193466.2(KANSL1):c.3128C>T (p.Ala1043Val)
NM_001193466.2(KANSL1):c.3143C>T (p.Ala1048Val)
NM_001193466.2(KANSL1):c.3154G>A (p.Asp1052Asn)
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.3245C>T (p.Ser1082Leu)
NM_001193466.2(KANSL1):c.3266A>G (p.Lys1089Arg) rs1568364868
NM_001193466.2(KANSL1):c.3272G>A (p.Arg1091Gln) rs752029022
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.388G>A (p.Val130Ile)
NM_001193466.2(KANSL1):c.392T>G (p.Leu131Trp) rs1486873707
NM_001193466.2(KANSL1):c.449del (p.Pro150fs) rs1567764119
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.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.531_540del (p.Gly179fs) rs1567763809
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.571G>T (p.Gly191Cys) rs149566146
NM_001193466.2(KANSL1):c.572del (p.Gly191fs) rs1555575816
NM_001193466.2(KANSL1):c.584G>A (p.Gly195Glu)
NM_001193466.2(KANSL1):c.607G>C (p.Gly203Arg) rs138175526
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.625A>G (p.Thr209Ala)
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.680G>A (p.Ser227Asn) rs150345690
NM_001193466.2(KANSL1):c.680G>T (p.Ser227Ile)
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.719C>T (p.Pro240Leu) rs767565501
NM_001193466.2(KANSL1):c.727C>A (p.Gln243Lys) rs142096969
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)
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)
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.849G>A (p.Arg283=) rs754362361
NM_001193466.2(KANSL1):c.868C>T (p.Arg290Ter) rs149830411
NM_001193466.2(KANSL1):c.878del (p.Asp293fs) rs1555575405
NM_001193466.2(KANSL1):c.881T>C (p.Ile294Thr)
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.916C>T (p.Gln306Ter) rs281865468
NM_001193466.2(KANSL1):c.949A>G (p.Ile317Val) rs139843442
NM_001193466.2(KANSL1):c.963G>A (p.Leu321=) rs772111208
NM_001193466.2(KANSL1):c.985_986del (p.Leu329fs) rs281865473
NM_001193466.2(KANSL1):c.985_995del (p.Leu329fs) rs1057518659
NM_015443.3(KANSL1):c.876del

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