ClinVar Miner

List of variants in gene KANSL1 reported as pathogenic by GeneDx

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Total variants: 18
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HGVS dbSNP
NM_015443.4(KANSL1):c.1006G>T (p.Glu336Ter) rs1555575197
NM_015443.4(KANSL1):c.1532del (p.Lys510_Leu511insTer) rs886039733
NM_015443.4(KANSL1):c.1579_1582del (p.Ile527fs) rs1057518182
NM_015443.4(KANSL1):c.1652+1G>A rs281865470
NM_015443.4(KANSL1):c.1726C>T (p.Arg576Ter)
NM_015443.4(KANSL1):c.1816C>T (p.Arg606Ter) rs281865469
NM_015443.4(KANSL1):c.2058del (p.Lys686fs) rs1064793433
NM_015443.4(KANSL1):c.2203+1G>A rs796052595
NM_015443.4(KANSL1):c.2311_2323delinsATG (p.Leu771fs) rs1064796433
NM_015443.4(KANSL1):c.2830_2837+13del rs1064796289
NM_015443.4(KANSL1):c.2902dup (p.Gln968fs) rs1374665357
NM_015443.4(KANSL1):c.2956_2957del (p.Gly986fs) rs1598441446
NM_015443.4(KANSL1):c.536_537dup (p.Lys180fs) rs1064794038
NM_015443.4(KANSL1):c.608_611dup (p.Met205fs) rs1304078301
NM_015443.4(KANSL1):c.699dup (p.Val234fs)
NM_015443.4(KANSL1):c.779del (p.Gly260fs) rs748018297
NM_015443.4(KANSL1):c.808del (p.Leu270fs) rs1555575489
NM_015443.4(KANSL1):c.868C>T (p.Arg290Ter) rs149830411

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