List of variants in gene KANSL1 reported as pathogenic for Inborn genetic diseases

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

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
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.1269del (p.Glu424fs)	rs1555574888

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