ClinVar Miner

List of variants in gene KANSL1 reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_015443.4(KANSL1):c.1533+161G>A rs117475340 0.00944
NM_015443.4(KANSL1):c.1849-283A>G rs147080346 0.00822
NM_015443.4(KANSL1):c.1653-177A>G rs111288789 0.00675
NM_015443.4(KANSL1):c.727C>A (p.Gln243Lys) rs142096969 0.00169
NM_015443.4(KANSL1):c.1826G>A (p.Ser609Asn) rs138698439 0.00146
NM_015443.4(KANSL1):c.773T>C (p.Leu258Ser) rs145714368 0.00067
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.2294C>T (p.Ala765Val) rs151099014 0.00036
NM_015443.4(KANSL1):c.1285C>A (p.Pro429Thr) rs142062936 0.00032
NM_015443.4(KANSL1):c.1124C>T (p.Ser375Leu) rs142696045 0.00022
NM_015443.4(KANSL1):c.525C>T (p.Ser175=) rs148321376 0.00021
NM_015443.4(KANSL1):c.122A>G (p.Asn41Ser) rs142587760 0.00019
NM_015443.4(KANSL1):c.620A>G (p.Asn207Ser) rs144882998 0.00019
NM_015443.4(KANSL1):c.2110T>C (p.Ser704Pro) rs202231419 0.00015
NM_015443.4(KANSL1):c.1187A>T (p.Gln396Leu) rs149302199 0.00014
NM_015443.4(KANSL1):c.701T>C (p.Val234Ala) rs199948200 0.00011
NM_015443.4(KANSL1):c.3146A>G (p.Glu1049Gly) rs771796347 0.00010
NM_015443.4(KANSL1):c.1189G>A (p.Ala397Thr) rs138565467 0.00009
NM_015443.4(KANSL1):c.1180A>G (p.Ser394Gly) rs751709708 0.00008
NM_015443.4(KANSL1):c.3264C>T (p.Leu1088=) rs370904425 0.00008
NM_015443.4(KANSL1):c.1157G>T (p.Ser386Ile) rs143589497 0.00007
NM_015443.4(KANSL1):c.12G>A (p.Met4Ile) rs146472353 0.00007
NM_015443.4(KANSL1):c.1000A>G (p.Asn334Asp) rs112150341 0.00006
NM_015443.4(KANSL1):c.1751C>T (p.Ser584Phe) rs544459109 0.00006
NM_015443.4(KANSL1):c.541C>T (p.Arg181Trp) rs375225315 0.00006
NM_015443.4(KANSL1):c.736A>G (p.Ser246Gly) rs141969887 0.00006
NM_015443.4(KANSL1):c.1276C>T (p.Arg426Cys) rs757224600 0.00005
NM_015443.4(KANSL1):c.889C>T (p.Arg297Cys) rs772236084 0.00005
NM_015443.4(KANSL1):c.*3G>A rs372125138 0.00004
NM_015443.4(KANSL1):c.-47C>T rs765669550 0.00004
NM_015443.4(KANSL1):c.1185A>G (p.Glu395=) rs199820469 0.00004
NM_015443.4(KANSL1):c.118G>A (p.Ala40Thr) rs376632173 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.3056G>A (p.Arg1019His) rs781056926 0.00004
NM_015443.4(KANSL1):c.1613C>T (p.Ser538Leu) rs142435060 0.00003
NM_015443.4(KANSL1):c.1929C>T (p.Thr643=) rs937831873 0.00003
NM_015443.4(KANSL1):c.2224C>T (p.Arg742Trp) rs150282556 0.00003
NM_015443.4(KANSL1):c.2755G>A (p.Ala919Thr) rs776547113 0.00003
NM_015443.4(KANSL1):c.3002C>T (p.Pro1001Leu) rs1037585739 0.00003
NM_015443.4(KANSL1):c.3038T>C (p.Leu1013Ser) rs138490347 0.00003
NM_015443.4(KANSL1):c.3260C>T (p.Pro1087Leu) rs781609742 0.00003
NM_015443.4(KANSL1):c.477G>T (p.Lys159Asn) rs188294801 0.00003
NM_015443.4(KANSL1):c.719C>T (p.Pro240Leu) rs767565501 0.00003
NM_015443.4(KANSL1):c.1106A>G (p.Asn369Ser) rs139564524 0.00002
NM_015443.4(KANSL1):c.112G>A (p.Gly38Ser) rs770738115 0.00002
NM_015443.4(KANSL1):c.669T>C (p.Tyr223=) rs778659171 0.00002
NM_015443.4(KANSL1):c.850A>G (p.Ile284Val) rs766991003 0.00002
NM_015443.4(KANSL1):c.1673A>T (p.Asp558Val) rs551923672 0.00001
NM_015443.4(KANSL1):c.1794C>A (p.Ser598Arg) rs749811911 0.00001
NM_015443.4(KANSL1):c.2067G>T (p.Trp689Cys) rs755418917 0.00001
NM_015443.4(KANSL1):c.2158C>T (p.Arg720Cys) rs376233499 0.00001
NM_015443.4(KANSL1):c.2509A>G (p.Ser837Gly) rs776349500 0.00001
NM_015443.4(KANSL1):c.3031C>A (p.Arg1011=) rs779686052 0.00001
NM_015443.4(KANSL1):c.3091-5_3091-2dup rs760084513 0.00001
NM_015443.4(KANSL1):c.3123C>G (p.Pro1041=) rs960036500 0.00001
NM_015443.4(KANSL1):c.500A>G (p.His167Arg) rs779594202 0.00001
NM_015443.4(KANSL1):c.610G>A (p.Gly204Ser) rs1057520810 0.00001
NM_015443.4(KANSL1):c.702C>A (p.Val234=) rs1057521846 0.00001
GRCh37/hg19 17q21.31(chr17:44166455-44291399)x3
NM_015443.4(KANSL1):c.-89-303A>G
NM_015443.4(KANSL1):c.-89-337A>G
NM_015443.4(KANSL1):c.-90+512del
NM_015443.4(KANSL1):c.1049C>G (p.Ala350Gly)
NM_015443.4(KANSL1):c.1057G>A (p.Ala353Thr)
NM_015443.4(KANSL1):c.1087A>G (p.Thr363Ala)
NM_015443.4(KANSL1):c.1432-140G>T
NM_015443.4(KANSL1):c.1491A>C (p.Pro497=)
NM_015443.4(KANSL1):c.1522A>T (p.Thr508Ser) rs1598573095
NM_015443.4(KANSL1):c.1534-300CT[5] rs144435729
NM_015443.4(KANSL1):c.1652+48T>C
NM_015443.4(KANSL1):c.1672G>C (p.Asp558His) rs796052594
NM_015443.4(KANSL1):c.1830C>A (p.Ile610=) rs150800846
NM_015443.4(KANSL1):c.1899C>T (p.Cys633=)
NM_015443.4(KANSL1):c.2021-234A>C
NM_015443.4(KANSL1):c.2203+75G>A
NM_015443.4(KANSL1):c.2233A>G (p.Arg745Gly) rs796052596
NM_015443.4(KANSL1):c.22C>G (p.Leu8Val)
NM_015443.4(KANSL1):c.2589C>T (p.Asn863=) rs1555731788
NM_015443.4(KANSL1):c.2710GAG[1] (p.Glu905del) rs551968687
NM_015443.4(KANSL1):c.2724+32C>T
NM_015443.4(KANSL1):c.3090+43A>G
NM_015443.4(KANSL1):c.3091-167C>T
NM_015443.4(KANSL1):c.37G>A (p.Ala13Thr) rs528026295
NM_015443.4(KANSL1):c.399_400insAAT (p.Phe133_Ser134insAsn) rs770503769
NM_015443.4(KANSL1):c.421A>G (p.Met141Val)
NM_015443.4(KANSL1):c.530A>G (p.Asn177Ser) rs765213873
NM_015443.4(KANSL1):c.570G>A (p.Gly190=) rs1365962710
NM_015443.4(KANSL1):c.778G>A (p.Gly260Ser) rs1159067199

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