ClinVar Miner

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

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Total variants: 184
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HGVS dbSNP
NM_015443.4(KANSL1):c.1020A>G (p.Pro340=)
NM_015443.4(KANSL1):c.1022G>A (p.Arg341Gln) rs371321182
NM_015443.4(KANSL1):c.1029G>A (p.Gln343=)
NM_015443.4(KANSL1):c.1042C>G (p.Arg348Gly)
NM_015443.4(KANSL1):c.1059C>A (p.Ala353=) rs761810633
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)
NM_015443.4(KANSL1):c.1095G>A (p.Glu365=)
NM_015443.4(KANSL1):c.112G>A (p.Gly38Ser) rs770738115
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.117C>T (p.Asn39=) rs747136051
NM_015443.4(KANSL1):c.1185A>G (p.Glu395=) rs199820469
NM_015443.4(KANSL1):c.1189G>A (p.Ala397Thr) rs138565467
NM_015443.4(KANSL1):c.1230G>A (p.Glu410=) rs777308407
NM_015443.4(KANSL1):c.1265A>T (p.Asp422Val) rs191058987
NM_015443.4(KANSL1):c.1269C>T (p.Pro423=) rs750165871
NM_015443.4(KANSL1):c.1280A>G (p.His427Arg)
NM_015443.4(KANSL1):c.1285C>A (p.Pro429Thr) rs142062936
NM_015443.4(KANSL1):c.1305A>G (p.Glu435=)
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.1432-4G>A rs749329088
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.1527T>G (p.Asp509Glu) rs527948436
NM_015443.4(KANSL1):c.1533+9A>G
NM_015443.4(KANSL1):c.1565A>G (p.His522Arg) rs587625643
NM_015443.4(KANSL1):c.1574C>G (p.Pro525Arg) rs144838667
NM_015443.4(KANSL1):c.1590T>A (p.Ile530=) rs151329554
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.1613C>T (p.Ser538Leu) rs142435060
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.1652C>T (p.Thr551Ile) rs778178483
NM_015443.4(KANSL1):c.1653-6G>A rs369261388
NM_015443.4(KANSL1):c.1654C>A (p.Leu552Ile) rs144337302
NM_015443.4(KANSL1):c.1671A>G (p.Ala557=) rs769241683
NM_015443.4(KANSL1):c.1673A>T (p.Asp558Val) rs551923672
NM_015443.4(KANSL1):c.1689C>T (p.Asp563=) rs113557856
NM_015443.4(KANSL1):c.1707A>G (p.Glu569=)
NM_015443.4(KANSL1):c.1830C>A (p.Ile610=) rs150800846
NM_015443.4(KANSL1):c.1839T>C (p.Leu613=) rs1598526728
NM_015443.4(KANSL1):c.1848+7A>G
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.1899C>T (p.Cys633=)
NM_015443.4(KANSL1):c.18C>T (p.Pro6=)
NM_015443.4(KANSL1):c.1902A>G (p.Ala634=) rs757691368
NM_015443.4(KANSL1):c.190C>A (p.Arg64=)
NM_015443.4(KANSL1):c.1949A>G (p.Tyr650Cys) rs777228945
NM_015443.4(KANSL1):c.1970G>A (p.Arg657His)
NM_015443.4(KANSL1):c.1989T>C (p.Ser663=) rs368175458
NM_015443.4(KANSL1):c.19G>A (p.Ala7Thr) rs768152581
NM_015443.4(KANSL1):c.2021-3C>T
NM_015443.4(KANSL1):c.2112G>A (p.Ser704=)
NM_015443.4(KANSL1):c.2139C>A (p.Gly713=)
NM_015443.4(KANSL1):c.213C>T (p.Asp71=) rs1041951554
NM_015443.4(KANSL1):c.2190C>T (p.Phe730=) rs145434865
NM_015443.4(KANSL1):c.2210C>T (p.Ser737Phe)
NM_015443.4(KANSL1):c.2230G>C (p.Asp744His) rs200103894
NM_015443.4(KANSL1):c.2238C>T (p.Thr746=)
NM_015443.4(KANSL1):c.2256C>T (p.Asp752=) rs760224197
NM_015443.4(KANSL1):c.2265G>A (p.Gly755=)
NM_015443.4(KANSL1):c.2268C>T (p.Ala756=) rs530885936
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.2298A>G (p.Pro766=) rs367624499
NM_015443.4(KANSL1):c.2308C>T (p.Arg770Cys)
NM_015443.4(KANSL1):c.2322A>G (p.Pro774=) rs765777662
NM_015443.4(KANSL1):c.2331C>T (p.Pro777=) rs139663254
NM_015443.4(KANSL1):c.2362T>C (p.Leu788=)
NM_015443.4(KANSL1):c.2393-9C>A rs1004017370
NM_015443.4(KANSL1):c.2424G>A (p.Ser808=) rs570967215
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)
NM_015443.4(KANSL1):c.2547G>A (p.Gln849=) rs763362339
NM_015443.4(KANSL1):c.2640G>A (p.Leu880=) rs773932947
NM_015443.4(KANSL1):c.2643A>G (p.Gln881=) rs749039030
NM_015443.4(KANSL1):c.2673G>A (p.Arg891=)
NM_015443.4(KANSL1):c.267T>C (p.Ser89=) rs756494221
NM_015443.4(KANSL1):c.2694G>A (p.Leu898=)
NM_015443.4(KANSL1):c.2710GAG[1] (p.Glu905del) rs551968687
NM_015443.4(KANSL1):c.2718T>G (p.Asn906Lys) rs139615350
NM_015443.4(KANSL1):c.2724+8C>T
NM_015443.4(KANSL1):c.2734C>T (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.2808G>A (p.Thr936=) rs372559911
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.2856C>T (p.Asp952=) rs1431158114
NM_015443.4(KANSL1):c.286T>C (p.Leu96=) rs140268765
NM_015443.4(KANSL1):c.2913C>A (p.Ser971=) rs781514778
NM_015443.4(KANSL1):c.2958T>C (p.Gly986=) rs767403167
NM_015443.4(KANSL1):c.2984C>T (p.Pro995Leu) rs761819132
NM_015443.4(KANSL1):c.298G>C (p.Gly100Arg)
NM_015443.4(KANSL1):c.300G>A (p.Gly100=)
NM_015443.4(KANSL1):c.3025A>C (p.Thr1009Pro)
NM_015443.4(KANSL1):c.3030G>A (p.Pro1010=) rs748843892
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.3091-10C>T rs199901217
NM_015443.4(KANSL1):c.3094G>C (p.Val1032Leu)
NM_015443.4(KANSL1):c.30C>T (p.Asp10=) rs200649587
NM_015443.4(KANSL1):c.3110G>A (p.Arg1037Gln)
NM_015443.4(KANSL1):c.3123C>G (p.Pro1041=) rs960036500
NM_015443.4(KANSL1):c.3129G>A (p.Ala1043=)
NM_015443.4(KANSL1):c.3170A>G (p.Gln1057Arg) rs201083879
NM_015443.4(KANSL1):c.3185G>A (p.Arg1062His) rs768018906
NM_015443.4(KANSL1):c.3258C>T (p.Val1086=)
NM_015443.4(KANSL1):c.3264C>T (p.Leu1088=) rs370904425
NM_015443.4(KANSL1):c.3279G>T (p.Leu1093=) rs1404523701
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.362G>A (p.Arg121Gln)
NM_015443.4(KANSL1):c.372G>A (p.Leu124=)
NM_015443.4(KANSL1):c.372G>T (p.Leu124=)
NM_015443.4(KANSL1):c.387A>G (p.Pro129=) rs753493307
NM_015443.4(KANSL1):c.468G>C (p.Gly156=) rs150877831
NM_015443.4(KANSL1):c.498A>C (p.Thr166=) rs141491325
NM_015443.4(KANSL1):c.525C>T (p.Ser175=) rs148321376
NM_015443.4(KANSL1):c.530A>G (p.Asn177Ser) rs765213873
NM_015443.4(KANSL1):c.531T>C (p.Asn177=) rs759846708
NM_015443.4(KANSL1):c.541C>T (p.Arg181Trp) rs375225315
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.674A>G (p.Asn225Ser)
NM_015443.4(KANSL1):c.680G>A (p.Ser227Asn) rs150345690
NM_015443.4(KANSL1):c.688A>G (p.Asn230Asp) rs34756740
NM_015443.4(KANSL1):c.701T>C (p.Val234Ala) rs199948200
NM_015443.4(KANSL1):c.702C>A (p.Val234=) rs1057521846
NM_015443.4(KANSL1):c.714A>G (p.Glu238=)
NM_015443.4(KANSL1):c.723A>G (p.Ala241=) rs375054119
NM_015443.4(KANSL1):c.727C>A (p.Gln243Lys) rs142096969
NM_015443.4(KANSL1):c.73C>G (p.Pro25Ala)
NM_015443.4(KANSL1):c.744A>G (p.Leu248=) rs748000142
NM_015443.4(KANSL1):c.767C>T (p.Ser256Phe) rs537773238
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.843C>T (p.Asp281=) rs753023870
NM_015443.4(KANSL1):c.849G>A (p.Arg283=) rs754362361
NM_015443.4(KANSL1):c.84C>T (p.Thr28=)
NM_015443.4(KANSL1):c.865C>T (p.Arg289Trp)
NM_015443.4(KANSL1):c.900A>G (p.Arg300=)
NM_015443.4(KANSL1):c.910C>T (p.Arg304Cys) rs756749550
NM_015443.4(KANSL1):c.912C>T (p.Arg304=) rs1175646397
NM_015443.4(KANSL1):c.913T>C (p.Leu305=) rs751030588
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>C (p.Glu314Asp)
NM_015443.4(KANSL1):c.954A>G (p.Gln318=) rs773332161
NM_015443.4(KANSL1):c.963G>A (p.Leu321=) rs772111208
NM_015443.4(KANSL1):c.999A>G (p.Pro333=)

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