ClinVar Miner

List of variants in gene KANSL1 reported as likely benign for Koolen-de Vries syndrome

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 261
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HGVS dbSNP gnomAD frequency
NM_015443.4(KANSL1):c.727C>A (p.Gln243Lys) rs142096969 0.00169
NM_015443.4(KANSL1):c.2718T>G (p.Asn906Lys) rs139615350 0.00125
NM_015443.4(KANSL1):c.1574C>G (p.Pro525Arg) rs144838667 0.00108
NM_015443.4(KANSL1):c.688A>G (p.Asn230Asp) rs34756740 0.00053
NM_015443.4(KANSL1):c.1689C>T (p.Asp563=) rs113557856 0.00051
NM_015443.4(KANSL1):c.3170A>G (p.Gln1057Arg) rs201083879 0.00037
NM_015443.4(KANSL1):c.1285C>A (p.Pro429Thr) rs142062936 0.00032
NM_015443.4(KANSL1):c.1654C>A (p.Leu552Ile) rs144337302 0.00029
NM_015443.4(KANSL1):c.286T>C (p.Leu96=) rs140268765 0.00024
NM_015443.4(KANSL1):c.525C>T (p.Ser175=) rs148321376 0.00021
NM_015443.4(KANSL1):c.1653-6G>A rs369261388 0.00016
NM_015443.4(KANSL1):c.498A>C (p.Thr166=) rs141491325 0.00014
NM_015443.4(KANSL1):c.701T>C (p.Val234Ala) rs199948200 0.00011
NM_015443.4(KANSL1):c.849G>A (p.Arg283=) rs754362361 0.00011
NM_015443.4(KANSL1):c.1189G>A (p.Ala397Thr) rs138565467 0.00009
NM_015443.4(KANSL1):c.30C>T (p.Asp10=) rs200649587 0.00009
NM_015443.4(KANSL1):c.1128T>A (p.Ile376=) rs148054472 0.00008
NM_015443.4(KANSL1):c.2837+14C>T rs770089639 0.00008
NM_015443.4(KANSL1):c.3091-10C>T rs199901217 0.00008
NM_015443.4(KANSL1):c.3264C>T (p.Leu1088=) rs370904425 0.00008
NM_015443.4(KANSL1):c.1022G>A (p.Arg341Gln) rs371321182 0.00006
NM_015443.4(KANSL1):c.1527T>G (p.Asp509Glu) rs527948436 0.00006
NM_015443.4(KANSL1):c.1751C>T (p.Ser584Phe) rs544459109 0.00006
NM_015443.4(KANSL1):c.2230G>C (p.Asp744His) rs200103894 0.00006
NM_015443.4(KANSL1):c.2331C>T (p.Pro777=) rs139663254 0.00006
NM_015443.4(KANSL1):c.531T>C (p.Asn177=) rs759846708 0.00006
NM_015443.4(KANSL1):c.541C>T (p.Arg181Trp) rs375225315 0.00006
NM_015443.4(KANSL1):c.2190C>T (p.Phe730=) rs145434865 0.00005
NM_015443.4(KANSL1):c.1185A>G (p.Glu395=) rs199820469 0.00004
NM_015443.4(KANSL1):c.1565A>G (p.His522Arg) rs587625643 0.00004
NM_015443.4(KANSL1):c.1652C>T (p.Thr551Ile) rs778178483 0.00004
NM_015443.4(KANSL1):c.2204-11C>A rs373489007 0.00004
NM_015443.4(KANSL1):c.2298A>G (p.Pro766=) rs367624499 0.00004
NM_015443.4(KANSL1):c.2322A>G (p.Pro774=) rs765777662 0.00004
NM_015443.4(KANSL1):c.1059C>A (p.Ala353=) rs761810633 0.00003
NM_015443.4(KANSL1):c.117C>T (p.Asn39=) rs747136051 0.00003
NM_015443.4(KANSL1):c.1613C>T (p.Ser538Leu) rs142435060 0.00003
NM_015443.4(KANSL1):c.2424G>A (p.Ser808=) rs570967215 0.00003
NM_015443.4(KANSL1):c.2640G>A (p.Leu880=) rs773932947 0.00003
NM_015443.4(KANSL1):c.387A>G (p.Pro129=) rs753493307 0.00003
NM_015443.4(KANSL1):c.468G>C (p.Gly156=) rs150877831 0.00003
NM_015443.4(KANSL1):c.767C>T (p.Ser256Phe) rs537773238 0.00003
NM_015443.4(KANSL1):c.843C>T (p.Asp281=) rs753023870 0.00003
NM_015443.4(KANSL1):c.954A>G (p.Gln318=) rs773332161 0.00003
NM_015443.4(KANSL1):c.963G>A (p.Leu321=) rs772111208 0.00003
NM_015443.4(KANSL1):c.112G>A (p.Gly38Ser) rs770738115 0.00002
NM_015443.4(KANSL1):c.1290-20C>T rs373424916 0.00002
NM_015443.4(KANSL1):c.1902A>G (p.Ala634=) rs757691368 0.00002
NM_015443.4(KANSL1):c.3185G>A (p.Arg1062His) rs768018906 0.00002
NM_015443.4(KANSL1):c.674A>G (p.Asn225Ser) rs766543331 0.00002
NM_015443.4(KANSL1):c.1042C>G (p.Arg348Gly) rs1427624649 0.00001
NM_015443.4(KANSL1):c.1265A>T (p.Asp422Val) rs191058987 0.00001
NM_015443.4(KANSL1):c.1289+9A>C rs760002592 0.00001
NM_015443.4(KANSL1):c.1590T>A (p.Ile530=) rs151329554 0.00001
NM_015443.4(KANSL1):c.1671A>G (p.Ala557=) rs769241683 0.00001
NM_015443.4(KANSL1):c.1673A>T (p.Asp558Val) rs551923672 0.00001
NM_015443.4(KANSL1):c.1779A>G (p.Thr593=) rs372072783 0.00001
NM_015443.4(KANSL1):c.1989T>C (p.Ser663=) rs368175458 0.00001
NM_015443.4(KANSL1):c.19G>A (p.Ala7Thr) rs768152581 0.00001
NM_015443.4(KANSL1):c.2067G>T (p.Trp689Cys) rs755418917 0.00001
NM_015443.4(KANSL1):c.2203+18G>A rs764721407 0.00001
NM_015443.4(KANSL1):c.2268C>T (p.Ala756=) rs530885936 0.00001
NM_015443.4(KANSL1):c.2308C>T (p.Arg770Cys) rs778213372 0.00001
NM_015443.4(KANSL1):c.2464T>G (p.Leu822Val) rs754877424 0.00001
NM_015443.4(KANSL1):c.2490A>G (p.Ser830=) rs200903355 0.00001
NM_015443.4(KANSL1):c.2547G>A (p.Gln849=) rs763362339 0.00001
NM_015443.4(KANSL1):c.2643A>G (p.Gln881=) rs749039030 0.00001
NM_015443.4(KANSL1):c.267T>C (p.Ser89=) rs756494221 0.00001
NM_015443.4(KANSL1):c.2808G>A (p.Thr936=) rs372559911 0.00001
NM_015443.4(KANSL1):c.2856C>T (p.Asp952=) rs1431158114 0.00001
NM_015443.4(KANSL1):c.2913C>A (p.Ser971=) rs781514778 0.00001
NM_015443.4(KANSL1):c.2984C>T (p.Pro995Leu) rs761819132 0.00001
NM_015443.4(KANSL1):c.3025A>C (p.Thr1009Pro) rs777045712 0.00001
NM_015443.4(KANSL1):c.3030G>A (p.Pro1010=) rs748843892 0.00001
NM_015443.4(KANSL1):c.3094G>C (p.Val1032Leu) rs767917046 0.00001
NM_015443.4(KANSL1):c.3110G>A (p.Arg1037Gln) rs762427291 0.00001
NM_015443.4(KANSL1):c.3123C>G (p.Pro1041=) rs960036500 0.00001
NM_015443.4(KANSL1):c.3279G>T (p.Leu1093=) rs1404523701 0.00001
NM_015443.4(KANSL1):c.362G>A (p.Arg121Gln) rs747500833 0.00001
NM_015443.4(KANSL1):c.702C>A (p.Val234=) rs1057521846 0.00001
NM_015443.4(KANSL1):c.723A>G (p.Ala241=) rs375054119 0.00001
NM_015443.4(KANSL1):c.744A>G (p.Leu248=) rs748000142 0.00001
NM_015443.4(KANSL1):c.865C>T (p.Arg289Trp) rs373759089 0.00001
NM_015443.4(KANSL1):c.910C>T (p.Arg304Cys) rs756749550 0.00001
NM_015443.4(KANSL1):c.912C>T (p.Arg304=) rs1175646397 0.00001
NM_015443.4(KANSL1):c.913T>C (p.Leu305=) rs751030588 0.00001
NM_015443.4(KANSL1):c.942G>C (p.Glu314Asp) rs765182404 0.00001
NM_015443.4(KANSL1):c.99T>C (p.Ser33=) rs766805510 0.00001
NM_015443.4(KANSL1):c.1020A>G (p.Pro340=)
NM_015443.4(KANSL1):c.1029G>A (p.Gln343=)
NM_015443.4(KANSL1):c.102C>T (p.Ala34=)
NM_015443.4(KANSL1):c.1030T>C (p.Leu344=)
NM_015443.4(KANSL1):c.1074C>T (p.Ala358=)
NM_015443.4(KANSL1):c.1080G>A (p.Glu360=) rs1232525310
NM_015443.4(KANSL1):c.1083C>T (p.Thr361=)
NM_015443.4(KANSL1):c.1092A>C (p.Ser364=)
NM_015443.4(KANSL1):c.1093G>A (p.Glu365Lys) rs2046257372
NM_015443.4(KANSL1):c.1095G>A (p.Glu365=)
NM_015443.4(KANSL1):c.1110T>C (p.Phe370=)
NM_015443.4(KANSL1):c.1152A>G (p.Thr384=) rs1597870803
NM_015443.4(KANSL1):c.1155T>G (p.Ala385=) rs1597870775
NM_015443.4(KANSL1):c.1230G>A (p.Glu410=) rs777308407
NM_015443.4(KANSL1):c.1269C>G (p.Pro423=)
NM_015443.4(KANSL1):c.1269C>T (p.Pro423=) rs750165871
NM_015443.4(KANSL1):c.1280A>G (p.His427Arg) rs1166960320
NM_015443.4(KANSL1):c.1289+14A>G
NM_015443.4(KANSL1):c.1289+20G>T
NM_015443.4(KANSL1):c.1296C>T (p.Arg432=)
NM_015443.4(KANSL1):c.1305A>G (p.Glu435=)
NM_015443.4(KANSL1):c.1326G>C (p.Arg442=)
NM_015443.4(KANSL1):c.1374C>T (p.Asp458=)
NM_015443.4(KANSL1):c.1404C>T (p.Asp468=)
NM_015443.4(KANSL1):c.1407T>C (p.Ile469=)
NM_015443.4(KANSL1):c.141C>T (p.Asn47=)
NM_015443.4(KANSL1):c.1432-13C>T
NM_015443.4(KANSL1):c.1432-4G>A rs749329088
NM_015443.4(KANSL1):c.1432-9A>G
NM_015443.4(KANSL1):c.1434G>T (p.Gly478=)
NM_015443.4(KANSL1):c.1452G>A (p.Glu484=)
NM_015443.4(KANSL1):c.1461C>G (p.Pro487=)
NM_015443.4(KANSL1):c.1503G>A (p.Glu501=)
NM_015443.4(KANSL1):c.1512A>G (p.Thr504=) rs1483287405
NM_015443.4(KANSL1):c.1533+7A>G
NM_015443.4(KANSL1):c.1533+9A>G
NM_015443.4(KANSL1):c.1568G>C (p.Gly523Ala) rs1568411157
NM_015443.4(KANSL1):c.1593A>G (p.Ser531=)
NM_015443.4(KANSL1):c.1599A>G (p.Ser533=) rs1555746340
NM_015443.4(KANSL1):c.159C>T (p.Ala53=)
NM_015443.4(KANSL1):c.15G>A (p.Ala5=)
NM_015443.4(KANSL1):c.1605T>C (p.Ser535=) rs200561483
NM_015443.4(KANSL1):c.1625T>A (p.Leu542His) rs796052593
NM_015443.4(KANSL1):c.1652+10A>C
NM_015443.4(KANSL1):c.1652+8T>G
NM_015443.4(KANSL1):c.168A>G (p.Ala56=)
NM_015443.4(KANSL1):c.1697A>T (p.Asp566Val)
NM_015443.4(KANSL1):c.1707A>G (p.Glu569=)
NM_015443.4(KANSL1):c.1830C>A (p.Ile610=) rs150800846
NM_015443.4(KANSL1):c.1830C>T (p.Ile610=)
NM_015443.4(KANSL1):c.1839T>C (p.Leu613=) rs1598526728
NM_015443.4(KANSL1):c.1848+7A>G
NM_015443.4(KANSL1):c.1849-18_1849-16del
NM_015443.4(KANSL1):c.1849-4A>G
NM_015443.4(KANSL1):c.1849-6T>A
NM_015443.4(KANSL1):c.1857G>C (p.Arg619=)
NM_015443.4(KANSL1):c.1857G>T (p.Arg619=) rs191986791
NM_015443.4(KANSL1):c.1882G>C (p.Asp628His)
NM_015443.4(KANSL1):c.1887G>A (p.Val629=)
NM_015443.4(KANSL1):c.1899C>T (p.Cys633=)
NM_015443.4(KANSL1):c.18C>T (p.Pro6=)
NM_015443.4(KANSL1):c.190C>A (p.Arg64=)
NM_015443.4(KANSL1):c.1917C>G (p.Gly639=)
NM_015443.4(KANSL1):c.1949A>G (p.Tyr650Cys) rs777228945
NM_015443.4(KANSL1):c.1970G>A (p.Arg657His) rs2077676783
NM_015443.4(KANSL1):c.2021-3C>T rs2077262439
NM_015443.4(KANSL1):c.2058A>G (p.Lys686=)
NM_015443.4(KANSL1):c.2078C>G (p.Pro693Arg)
NM_015443.4(KANSL1):c.2112G>A (p.Ser704=)
NM_015443.4(KANSL1):c.2115T>G (p.Leu705=)
NM_015443.4(KANSL1):c.2130C>T (p.Pro710=)
NM_015443.4(KANSL1):c.2139C>A (p.Gly713=)
NM_015443.4(KANSL1):c.213C>T (p.Asp71=) rs1041951554
NM_015443.4(KANSL1):c.2203+17C>T
NM_015443.4(KANSL1):c.2204-8C>T
NM_015443.4(KANSL1):c.2205G>C (p.Lys735Asn)
NM_015443.4(KANSL1):c.2210C>T (p.Ser737Phe)
NM_015443.4(KANSL1):c.2223C>A (p.Thr741=)
NM_015443.4(KANSL1):c.2238C>T (p.Thr746=)
NM_015443.4(KANSL1):c.2256C>T (p.Asp752=) rs760224197
NM_015443.4(KANSL1):c.2262G>A (p.Val754=)
NM_015443.4(KANSL1):c.2265G>A (p.Gly755=)
NM_015443.4(KANSL1):c.2271G>A (p.Val757=) rs1598456648
NM_015443.4(KANSL1):c.2285G>A (p.Arg762Gln)
NM_015443.4(KANSL1):c.228A>G (p.Gln76=)
NM_015443.4(KANSL1):c.2313G>A (p.Leu771=)
NM_015443.4(KANSL1):c.2362T>C (p.Leu788=)
NM_015443.4(KANSL1):c.2392+14C>T
NM_015443.4(KANSL1):c.2393-17T>G
NM_015443.4(KANSL1):c.2393-20T>A
NM_015443.4(KANSL1):c.2393-9C>A rs1004017370
NM_015443.4(KANSL1):c.2433G>A (p.Leu811=)
NM_015443.4(KANSL1):c.2454A>G (p.Pro818=)
NM_015443.4(KANSL1):c.2463C>T (p.Pro821=)
NM_015443.4(KANSL1):c.249C>G (p.Leu83=)
NM_015443.4(KANSL1):c.249C>T (p.Leu83=)
NM_015443.4(KANSL1):c.2502A>G (p.Ala834=) rs749802464
NM_015443.4(KANSL1):c.2505C>T (p.Pro835=)
NM_015443.4(KANSL1):c.2510G>T (p.Ser837Ile) rs770500282
NM_015443.4(KANSL1):c.2529A>T (p.Thr843=)
NM_015443.4(KANSL1):c.2554A>C (p.Arg852=)
NM_015443.4(KANSL1):c.2658T>G (p.Leu886=)
NM_015443.4(KANSL1):c.2661G>T (p.Thr887=)
NM_015443.4(KANSL1):c.2666+17G>A
NM_015443.4(KANSL1):c.2673G>A (p.Arg891=)
NM_015443.4(KANSL1):c.2694G>A (p.Leu898=)
NM_015443.4(KANSL1):c.2710GAG[1] (p.Glu905del) rs551968687
NM_015443.4(KANSL1):c.2724+8C>T
NM_015443.4(KANSL1):c.2734C>T (p.Leu912=)
NM_015443.4(KANSL1):c.2736A>G (p.Leu912=)
NM_015443.4(KANSL1):c.2739C>T (p.Ser913=)
NM_015443.4(KANSL1):c.2754C>T (p.Ala918=)
NM_015443.4(KANSL1):c.2837+7G>T rs780476310
NM_015443.4(KANSL1):c.2838-6G>T rs1555730956
NM_015443.4(KANSL1):c.2838-8G>A
NM_015443.4(KANSL1):c.2838-8G>T
NM_015443.4(KANSL1):c.2874G>A (p.Gln958=)
NM_015443.4(KANSL1):c.2877G>T (p.Leu959=)
NM_015443.4(KANSL1):c.2900C>A (p.Pro967His)
NM_015443.4(KANSL1):c.2931C>T (p.Ser977=)
NM_015443.4(KANSL1):c.2958T>C (p.Gly986=) rs767403167
NM_015443.4(KANSL1):c.298G>C (p.Gly100Arg) rs766155678
NM_015443.4(KANSL1):c.300G>A (p.Gly100=)
NM_015443.4(KANSL1):c.3054C>T (p.Thr1018=)
NM_015443.4(KANSL1):c.3057T>C (p.Arg1019=) rs1598441174
NM_015443.4(KANSL1):c.3090+10G>A
NM_015443.4(KANSL1):c.3090+9C>T
NM_015443.4(KANSL1):c.3091-7C>T
NM_015443.4(KANSL1):c.3129G>A (p.Ala1043=)
NM_015443.4(KANSL1):c.3144G>C (p.Ala1048=)
NM_015443.4(KANSL1):c.3146A>T (p.Glu1049Val)
NM_015443.4(KANSL1):c.315G>A (p.Gln105=) rs761904417
NM_015443.4(KANSL1):c.3193C>T (p.Arg1065Ter)
NM_015443.4(KANSL1):c.3235G>A (p.Ala1079Thr)
NM_015443.4(KANSL1):c.3237G>T (p.Ala1079=)
NM_015443.4(KANSL1):c.3246G>A (p.Ser1082=)
NM_015443.4(KANSL1):c.324T>C (p.Leu108=)
NM_015443.4(KANSL1):c.3258C>T (p.Val1086=)
NM_015443.4(KANSL1):c.3279G>A (p.Leu1093=)
NM_015443.4(KANSL1):c.327A>G (p.Lys109=) rs749575109
NM_015443.4(KANSL1):c.3294A>T (p.Thr1098=)
NM_015443.4(KANSL1):c.33A>G (p.Ala11=)
NM_015443.4(KANSL1):c.360C>A (p.Leu120=)
NM_015443.4(KANSL1):c.372G>A (p.Leu124=)
NM_015443.4(KANSL1):c.372G>T (p.Leu124=)
NM_015443.4(KANSL1):c.429G>C (p.Thr143=)
NM_015443.4(KANSL1):c.468G>A (p.Gly156=)
NM_015443.4(KANSL1):c.481T>C (p.Leu161=)
NM_015443.4(KANSL1):c.530A>G (p.Asn177Ser) rs765213873
NM_015443.4(KANSL1):c.543G>T (p.Arg181=)
NM_015443.4(KANSL1):c.555A>C (p.Ser185=)
NM_015443.4(KANSL1):c.566A>T (p.His189Leu)
NM_015443.4(KANSL1):c.570G>A (p.Gly190=) rs1365962710
NM_015443.4(KANSL1):c.607G>T (p.Gly203Trp)
NM_015443.4(KANSL1):c.657C>T (p.His219=)
NM_015443.4(KANSL1):c.680G>A (p.Ser227Asn) rs150345690
NM_015443.4(KANSL1):c.714A>G (p.Glu238=)
NM_015443.4(KANSL1):c.717G>A (p.Gln239=)
NM_015443.4(KANSL1):c.720G>A (p.Pro240=)
NM_015443.4(KANSL1):c.73C>G (p.Pro25Ala) rs778091394
NM_015443.4(KANSL1):c.773_774inv (p.Leu258Ser)
NM_015443.4(KANSL1):c.783C>G (p.Val261=) rs1555575518
NM_015443.4(KANSL1):c.787T>C (p.Leu263=)
NM_015443.4(KANSL1):c.810G>A (p.Leu270=)
NM_015443.4(KANSL1):c.819T>A (p.Ile273=)
NM_015443.4(KANSL1):c.837T>C (p.Asp279=)
NM_015443.4(KANSL1):c.84C>T (p.Thr28=)
NM_015443.4(KANSL1):c.900A>G (p.Arg300=)
NM_015443.4(KANSL1):c.915A>G (p.Leu305=)
NM_015443.4(KANSL1):c.930C>G (p.Ala310=)
NM_015443.4(KANSL1):c.930C>T (p.Ala310=) rs763673329
NM_015443.4(KANSL1):c.942G>A (p.Glu314=)
NM_015443.4(KANSL1):c.999A>G (p.Pro333=)

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