ClinVar Miner

List of variants in gene KANSL1 studied for not specified

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Gene type:
ClinVar version:
Total variants: 182
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HGVS dbSNP gnomAD frequency
NM_015443.4(KANSL1):c.1011C>G (p.Ser337=) rs2240758 0.16502
NM_015443.4(KANSL1):c.2136G>A (p.Pro712=) rs2277613 0.04041
NM_015443.4(KANSL1):c.2109A>G (p.Leu703=) rs34101027 0.00967
NM_015443.4(KANSL1):c.1289+18A>G rs150225895 0.00275
NM_015443.4(KANSL1):c.3091-18C>G rs186216018 0.00191
NM_015443.4(KANSL1):c.727C>A (p.Gln243Lys) rs142096969 0.00169
NM_015443.4(KANSL1):c.1653-10C>G rs199642265 0.00162
NM_015443.4(KANSL1):c.607G>C (p.Gly203Arg) rs138175526 0.00156
NM_015443.4(KANSL1):c.1116A>G (p.Lys372=) rs62639965 0.00140
NM_015443.4(KANSL1):c.1574C>G (p.Pro525Arg) rs144838667 0.00108
NM_015443.4(KANSL1):c.2949C>T (p.Tyr983=) rs146848167 0.00091
NM_015443.4(KANSL1):c.2628C>T (p.Arg876=) rs149756887 0.00087
NM_015443.4(KANSL1):c.773T>C (p.Leu258Ser) rs145714368 0.00067
NM_015443.4(KANSL1):c.1938C>T (p.Pro646=) rs371047711 0.00051
NM_015443.4(KANSL1):c.2481C>T (p.Ser827=) rs143653891 0.00044
NM_015443.4(KANSL1):c.571G>T (p.Gly191Cys) rs149566146 0.00041
NM_015443.4(KANSL1):c.1653-11C>T rs201471275 0.00035
NM_015443.4(KANSL1):c.-90+397G>T rs566057890 0.00034
NM_015443.4(KANSL1):c.2698G>A (p.Gly900Arg) rs74867664 0.00032
NM_015443.4(KANSL1):c.2725-7A>G rs186818985 0.00024
NM_015443.4(KANSL1):c.2110T>C (p.Ser704Pro) rs202231419 0.00015
NM_015443.4(KANSL1):c.849G>A (p.Arg283=) rs754362361 0.00011
NM_015443.4(KANSL1):c.862C>T (p.Leu288=) rs144805634 0.00010
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.2441C>G (p.Thr814Ser) rs757031050 0.00007
NM_015443.4(KANSL1):c.619A>G (p.Asn207Asp) rs372601814 0.00007
NM_015443.4(KANSL1):c.-12T>C rs560212050 0.00006
NM_015443.4(KANSL1):c.-35C>T rs200079769 0.00006
NM_015443.4(KANSL1):c.1277G>A (p.Arg426His) rs764291274 0.00006
NM_015443.4(KANSL1):c.1343G>A (p.Arg448His) rs760727599 0.00006
NM_015443.4(KANSL1):c.1527T>G (p.Asp509Glu) rs527948436 0.00006
NM_015443.4(KANSL1):c.1831G>A (p.Val611Ile) rs202150313 0.00006
NM_015443.4(KANSL1):c.2331C>T (p.Pro777=) rs139663254 0.00006
NM_015443.4(KANSL1):c.296A>G (p.Gln99Arg) rs754727332 0.00006
NM_015443.4(KANSL1):c.2985G>A (p.Pro995=) rs371484505 0.00006
NM_015443.4(KANSL1):c.3053C>T (p.Thr1018Ile) rs145863194 0.00006
NM_015443.4(KANSL1):c.3306G>A (p.Pro1102=) rs143746890 0.00006
NM_015443.4(KANSL1):c.353A>G (p.Tyr118Cys) rs781582912 0.00006
NM_015443.4(KANSL1):c.736A>G (p.Ser246Gly) rs141969887 0.00006
NM_015443.4(KANSL1):c.868C>T (p.Arg290Ter) rs149830411 0.00006
NM_015443.4(KANSL1):c.896G>A (p.Arg299His) rs201785695 0.00005
NM_015443.4(KANSL1):c.2322A>G (p.Pro774=) rs765777662 0.00004
NM_015443.4(KANSL1):c.2414T>C (p.Met805Thr) rs201526313 0.00004
NM_015443.4(KANSL1):c.2480C>T (p.Ser827Phe) rs773238363 0.00004
NM_015443.4(KANSL1):c.3138C>G (p.Pro1046=) rs776183957 0.00004
NM_015443.4(KANSL1):c.*2C>T rs774194245 0.00003
NM_015443.4(KANSL1):c.-34G>A rs369409842 0.00003
NM_015443.4(KANSL1):c.-90+394C>G rs1057523908 0.00003
NM_015443.4(KANSL1):c.-90+404G>C rs796052591 0.00003
NM_015443.4(KANSL1):c.1021C>T (p.Arg341Trp) rs373918467 0.00003
NM_015443.4(KANSL1):c.1059C>A (p.Ala353=) rs761810633 0.00003
NM_015443.4(KANSL1):c.1138T>C (p.Leu380=) rs945190511 0.00003
NM_015443.4(KANSL1):c.1141G>C (p.Glu381Gln) rs779968528 0.00003
NM_015443.4(KANSL1):c.1431+13T>G rs1057520294 0.00003
NM_015443.4(KANSL1):c.1523C>A (p.Thr508Asn) rs375555532 0.00003
NM_015443.4(KANSL1):c.1667T>G (p.Leu556Trp) rs200449833 0.00003
NM_015443.4(KANSL1):c.1781G>A (p.Arg594His) rs1057520691 0.00003
NM_015443.4(KANSL1):c.1855C>T (p.Arg619Trp) rs141298741 0.00003
NM_015443.4(KANSL1):c.2194A>G (p.Thr732Ala) rs1036089094 0.00003
NM_015443.4(KANSL1):c.2538A>G (p.Thr846=) rs148718200 0.00003
NM_015443.4(KANSL1):c.2837+8G>A rs1057521434 0.00003
NM_015443.4(KANSL1):c.3008C>T (p.Thr1003Ile) rs775516828 0.00003
NM_015443.4(KANSL1):c.3082G>C (p.Asp1028His) rs765297359 0.00003
NM_015443.4(KANSL1):c.387A>G (p.Pro129=) rs753493307 0.00003
NM_015443.4(KANSL1):c.477G>T (p.Lys159Asn) rs188294801 0.00003
NM_015443.4(KANSL1):c.56G>A (p.Arg19Gln) rs767960522 0.00003
NM_015443.4(KANSL1):c.1118G>C (p.Ser373Thr) rs747621748 0.00002
NM_015443.4(KANSL1):c.1290-20C>T rs373424916 0.00002
NM_015443.4(KANSL1):c.1459C>G (p.Pro487Ala) rs566436667 0.00002
NM_015443.4(KANSL1):c.2791C>T (p.Arg931Trp) rs377108187 0.00002
NM_015443.4(KANSL1):c.3185G>A (p.Arg1062His) rs768018906 0.00002
NM_015443.4(KANSL1):c.3305C>T (p.Pro1102Leu) rs542543248 0.00002
NM_015443.4(KANSL1):c.803C>T (p.Ser268Phe) rs1343422507 0.00002
NM_015443.4(KANSL1):c.-89-17T>C rs1051577933 0.00001
NM_015443.4(KANSL1):c.100G>A (p.Ala34Thr) rs761416645 0.00001
NM_015443.4(KANSL1):c.103G>A (p.Glu35Lys) rs369793673 0.00001
NM_015443.4(KANSL1):c.1227G>A (p.Gly409=) rs759914607 0.00001
NM_015443.4(KANSL1):c.1265A>T (p.Asp422Val) rs191058987 0.00001
NM_015443.4(KANSL1):c.1270G>A (p.Glu424Lys) rs780942888 0.00001
NM_015443.4(KANSL1):c.1289+9A>C rs760002592 0.00001
NM_015443.4(KANSL1):c.1547C>G (p.Ser516Cys) rs796052584 0.00001
NM_015443.4(KANSL1):c.1779A>G (p.Thr593=) rs372072783 0.00001
NM_015443.4(KANSL1):c.191G>A (p.Arg64Gln) rs752415137 0.00001
NM_015443.4(KANSL1):c.2077C>G (p.Pro693Ala) rs1057520758 0.00001
NM_015443.4(KANSL1):c.2106G>C (p.Lys702Asn) rs371108710 0.00001
NM_015443.4(KANSL1):c.2203+18G>A rs764721407 0.00001
NM_015443.4(KANSL1):c.2464T>G (p.Leu822Val) rs754877424 0.00001
NM_015443.4(KANSL1):c.2677G>A (p.Val893Ile) rs1057523139 0.00001
NM_015443.4(KANSL1):c.267T>C (p.Ser89=) rs756494221 0.00001
NM_015443.4(KANSL1):c.2724+17T>C rs1057523856 0.00001
NM_015443.4(KANSL1):c.2808G>A (p.Thr936=) rs372559911 0.00001
NM_015443.4(KANSL1):c.2878G>A (p.Gly960Ser) rs1315792143 0.00001
NM_015443.4(KANSL1):c.3019C>T (p.Arg1007Trp) rs1057522661 0.00001
NM_015443.4(KANSL1):c.3030G>A (p.Pro1010=) rs748843892 0.00001
NM_015443.4(KANSL1):c.3196C>T (p.Arg1066Cys) rs1259929847 0.00001
NM_015443.4(KANSL1):c.3221G>A (p.Arg1074Gln) rs763541067 0.00001
NM_015443.4(KANSL1):c.3236C>T (p.Ala1079Val) rs370112084 0.00001
NM_015443.4(KANSL1):c.439A>G (p.Thr147Ala) rs761775758 0.00001
NM_015443.4(KANSL1):c.520A>G (p.Thr174Ala) rs1057520684 0.00001
NM_015443.4(KANSL1):c.585A>G (p.Gly195=) rs751318218 0.00001
NM_015443.4(KANSL1):c.682A>T (p.Thr228Ser) rs762022186 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.808_809del (p.Leu270fs) rs551541795 0.00001
NM_015443.4(KANSL1):c.858T>C (p.Ala286=) rs923328856 0.00001
NM_015443.4(KANSL1):c.895C>T (p.Arg299Cys) rs755353984 0.00001
NM_015443.4(KANSL1):c.8C>T (p.Ala3Val) rs376233244 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.99T>C (p.Ser33=) rs766805510 0.00001
NM_015443.4(KANSL1):c.-49CTCGGC[1] rs769218713
NM_015443.4(KANSL1):c.-49CTCGGC[3] rs769218713
NM_015443.4(KANSL1):c.-70G>T rs1203577051
NM_015443.4(KANSL1):c.-72C>T rs1555576484
NM_015443.4(KANSL1):c.-90+392G>A rs1057523278
NM_015443.4(KANSL1):c.-90+420C>A rs189789192
NM_015443.4(KANSL1):c.-90+420C>G rs189789192
NM_015443.4(KANSL1):c.1010_1011delinsTG (p.Ser337Leu) rs1064795666
NM_015443.4(KANSL1):c.1126A>G (p.Ile376Val) rs754713192
NM_015443.4(KANSL1):c.1230G>T (p.Glu410Asp) rs777308407
NM_015443.4(KANSL1):c.1248A>G (p.Glu416=) rs1057521219
NM_015443.4(KANSL1):c.1269C>T (p.Pro423=) rs750165871
NM_015443.4(KANSL1):c.1277G>C (p.Arg426Pro) rs764291274
NM_015443.4(KANSL1):c.1348A>C (p.Asn450His) rs1057520848
NM_015443.4(KANSL1):c.134C>T (p.Ala45Val) rs1555576198
NM_015443.4(KANSL1):c.1364A>G (p.His455Arg) rs1057521224
NM_015443.4(KANSL1):c.1410C>A (p.Tyr470Ter) rs776206707
NM_015443.4(KANSL1):c.1423G>A (p.Ala475Thr) rs547462953
NM_015443.4(KANSL1):c.1483T>C (p.Phe495Leu) rs757581698
NM_015443.4(KANSL1):c.1606A>G (p.Thr536Ala) rs1057520967
NM_015443.4(KANSL1):c.1625T>A (p.Leu542His) rs796052593
NM_015443.4(KANSL1):c.1650C>T (p.Asn550=) rs1057523989
NM_015443.4(KANSL1):c.1738G>C (p.Val580Leu) rs117412152
NM_015443.4(KANSL1):c.1857G>T (p.Arg619=) rs191986791
NM_015443.4(KANSL1):c.1937C>T (p.Pro646Leu) rs796052585
NM_015443.4(KANSL1):c.1979A>G (p.Gln660Arg) rs761226381
NM_015443.4(KANSL1):c.2020+19T>C rs1030510609
NM_015443.4(KANSL1):c.2125G>A (p.Ala709Thr) rs796052586
NM_015443.4(KANSL1):c.213C>T (p.Asp71=) rs1041951554
NM_015443.4(KANSL1):c.2235G>C (p.Arg745Ser) rs995942850
NM_015443.4(KANSL1):c.2256C>T (p.Asp752=) rs760224197
NM_015443.4(KANSL1):c.2324C>G (p.Pro775Arg) rs796052587
NM_015443.4(KANSL1):c.2371C>A (p.His791Asn) rs1057523108
NM_015443.4(KANSL1):c.2392+15A>G rs769760161
NM_015443.4(KANSL1):c.2401C>A (p.His801Asn) rs1057520851
NM_015443.4(KANSL1):c.2493T>G (p.Asp831Glu) rs1457193430
NM_015443.4(KANSL1):c.2502A>G (p.Ala834=) rs749802464
NM_015443.4(KANSL1):c.2503C>T (p.Pro835Ser) rs1555733519
NM_015443.4(KANSL1):c.2524G>A (p.Val842Ile) rs758243969
NM_015443.4(KANSL1):c.264A>G (p.Thr88=) rs1057520987
NM_015443.4(KANSL1):c.2661G>A (p.Thr887=) rs769682055
NM_015443.4(KANSL1):c.266C>T (p.Ser89Phe) rs1057520835
NM_015443.4(KANSL1):c.2683C>G (p.Leu895Val) rs555819683
NM_015443.4(KANSL1):c.2710GAG[1] (p.Glu905del) rs551968687
NM_015443.4(KANSL1):c.2768A>G (p.Lys923Arg) rs1555731268
NM_015443.4(KANSL1):c.2906C>G (p.Pro969Arg)
NM_015443.4(KANSL1):c.2951C>A (p.Ser984Tyr) rs796052588
NM_015443.4(KANSL1):c.2958T>C (p.Gly986=) rs767403167
NM_015443.4(KANSL1):c.2994C>T (p.His998=) rs1555730816
NM_015443.4(KANSL1):c.3035A>G (p.His1012Arg) rs1057522732
NM_015443.4(KANSL1):c.3053C>A (p.Thr1018Asn) rs145863194
NM_015443.4(KANSL1):c.3063C>T (p.Ser1021=)
NM_015443.4(KANSL1):c.3094G>T (p.Val1032Phe) rs767917046
NM_015443.4(KANSL1):c.3141G>C (p.Gln1047His) rs796052589
NM_015443.4(KANSL1):c.3148T>C (p.Cys1050Arg) rs796052590
NM_015443.4(KANSL1):c.3158A>G (p.Gln1053Arg) rs1057523651
NM_015443.4(KANSL1):c.315G>A (p.Gln105=) rs761904417
NM_015443.4(KANSL1):c.3215C>T (p.Thr1072Ile) rs1057520993
NM_015443.4(KANSL1):c.500A>C (p.His167Pro) rs779594202
NM_015443.4(KANSL1):c.552T>C (p.Thr184=) rs772655276
NM_015443.4(KANSL1):c.617C>G (p.Thr206Ser) rs761141661
NM_015443.4(KANSL1):c.620A>T (p.Asn207Ile) rs144882998
NM_015443.4(KANSL1):c.632C>T (p.Pro211Leu) rs1057520685
NM_015443.4(KANSL1):c.635A>C (p.His212Pro) rs141110759
NM_015443.4(KANSL1):c.706T>A (p.Ser236Thr) rs747832991
NM_015443.4(KANSL1):c.750T>C (p.Pro250=) rs1555575566
NM_015443.4(KANSL1):c.845C>A (p.Thr282Lys) rs779421348
NM_015443.4(KANSL1):c.876T>G (p.Ala292=) rs1057522110
NM_015443.4(KANSL1):c.911G>A (p.Arg304His) rs1484397126
NM_015443.4(KANSL1):c.932A>G (p.Lys311Arg) rs1555575305

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