ClinVar Miner

List of variants in gene KANSL1 studied for Inborn genetic diseases

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_015443.4(KANSL1):c.727C>A (p.Gln243Lys) rs142096969 0.00174
NM_015443.4(KANSL1):c.688A>G (p.Asn230Asp) rs34756740 0.00053
NM_015443.4(KANSL1):c.571G>T (p.Gly191Cys) rs149566146 0.00042
NM_015443.4(KANSL1):c.2159G>A (p.Arg720His) rs148825937 0.00026
NM_015443.4(KANSL1):c.122A>G (p.Asn41Ser) rs142587760 0.00015
NM_015443.4(KANSL1):c.2110T>C (p.Ser704Pro) rs202231419 0.00015
NM_015443.4(KANSL1):c.3146A>G (p.Glu1049Gly) rs771796347 0.00010
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.1751C>T (p.Ser584Phe) rs544459109 0.00006
NM_015443.4(KANSL1):c.296A>G (p.Gln99Arg) rs754727332 0.00006
NM_015443.4(KANSL1):c.3053C>T (p.Thr1018Ile) rs145863194 0.00006
NM_015443.4(KANSL1):c.518C>T (p.Ser173Phe) rs750012482 0.00006
NM_015443.4(KANSL1):c.868C>T (p.Arg290Ter) rs149830411 0.00006
NM_015443.4(KANSL1):c.1565A>G (p.His522Arg) rs587625643 0.00004
NM_015443.4(KANSL1):c.2414T>C (p.Met805Thr) rs201526313 0.00004
NM_015443.4(KANSL1):c.1945C>G (p.His649Asp) rs759914921 0.00003
NM_015443.4(KANSL1):c.2111C>T (p.Ser704Leu) rs762407803 0.00002
NM_015443.4(KANSL1):c.2406C>A (p.His802Gln) rs773681267 0.00002
NM_015443.4(KANSL1):c.2900C>A (p.Pro967His) rs770177501 0.00001
NM_015443.4(KANSL1):c.3230A>T (p.Glu1077Val) rs760256746 0.00001
NM_015443.4(KANSL1):c.3236C>T (p.Ala1079Val) rs370112084 0.00001
NM_015443.4(KANSL1):c.500A>G (p.His167Arg) rs779594202 0.00001
NM_015443.4(KANSL1):c.709A>G (p.Met237Val) rs778942078 0.00001
NM_015443.4(KANSL1):c.808_809del (p.Leu270fs) rs551541795 0.00001
NM_015443.4(KANSL1):c.895C>T (p.Arg299Cys) rs755353984 0.00001
NM_015443.4(KANSL1):c.1039_1057del (p.Thr347fs) rs2046260021
NM_015443.4(KANSL1):c.1042C>T (p.Arg348Ter) rs1427624649
NM_015443.4(KANSL1):c.1165G>A (p.Ala389Thr)
NM_015443.4(KANSL1):c.1166C>T (p.Ala389Val) rs368394693
NM_015443.4(KANSL1):c.1269del (p.Glu424fs) rs1555574888
NM_015443.4(KANSL1):c.1576A>G (p.Ile526Val)
NM_015443.4(KANSL1):c.1727G>T (p.Arg576Leu)
NM_015443.4(KANSL1):c.1859A>C (p.Asn620Thr) rs200979425
NM_015443.4(KANSL1):c.2020+1G>A
NM_015443.4(KANSL1):c.2155G>C (p.Ala719Pro)
NM_015443.4(KANSL1):c.2236A>T (p.Thr746Ser)
NM_015443.4(KANSL1):c.2519C>A (p.Ser840Ter)
NM_015443.4(KANSL1):c.271C>T (p.Pro91Ser)
NM_015443.4(KANSL1):c.2752G>A (p.Ala918Thr)
NM_015443.4(KANSL1):c.2762A>G (p.His921Arg) rs1555731275
NM_015443.4(KANSL1):c.2837+1G>A rs2077054270
NM_015443.4(KANSL1):c.2857G>A (p.Gly953Ser)
NM_015443.4(KANSL1):c.3028C>G (p.Pro1010Ala)
NM_015443.4(KANSL1):c.3296C>T (p.Ala1099Val)
NM_015443.4(KANSL1):c.3312C>G (p.His1104Gln)
NM_015443.4(KANSL1):c.613A>T (p.Met205Leu) rs1236541973
NM_015443.4(KANSL1):c.73C>G (p.Pro25Ala) rs778091394
NM_015443.4(KANSL1):c.764G>T (p.Ser255Ile)
NM_015443.4(KANSL1):c.916C>T (p.Gln306Ter) rs281865468
NM_015443.4(KANSL1):c.936G>C (p.Gln312His)
NM_015443.4(KANSL1):c.986T>C (p.Leu329Ser)

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