List of variants in gene KANSL1 reported as pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_015443.4(KANSL1):c.868C>T (p.Arg290Ter)	rs149830411	0.00006
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.2470C>T (p.Arg824Ter)
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.902T>A (p.Leu301Ter)	rs1189248208

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