List of variants in gene KANSL1 reported as pathogenic by GeneDx

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Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 13

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HGVS	dbSNP
NM_001193466.2(KANSL1):c.1006G>T (p.Glu336Ter)	rs1555575197
NM_001193466.2(KANSL1):c.1532del (p.Lys510_Leu511insTer)	rs886039733
NM_001193466.2(KANSL1):c.1579_1582del (p.Ile527fs)	rs1057518182
NM_001193466.2(KANSL1):c.1652+1G>A	rs281865470
NM_001193466.2(KANSL1):c.1816C>T (p.Arg606Ter)	rs281865469
NM_001193466.2(KANSL1):c.2058del (p.Lys686fs)	rs1064793433
NM_001193466.2(KANSL1):c.2203+1G>A	rs796052595
NM_001193466.2(KANSL1):c.2311_2323delinsATG (p.Leu771fs)	rs1064796433
NM_001193466.2(KANSL1):c.2830_2837+13del	rs1064796289
NM_001193466.2(KANSL1):c.536_537dup (p.Lys180fs)	rs1064794038
NM_001193466.2(KANSL1):c.779del (p.Gly260fs)	rs748018297
NM_001193466.2(KANSL1):c.808del (p.Leu270fs)	rs1555575489
NM_001193466.2(KANSL1):c.868C>T (p.Arg290Ter)	rs149830411

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