ClinVar Miner

List of variants in gene KANSL1 reported as pathogenic for Intellectual disability

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)
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Total variants: 3

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HGVS	dbSNP
NM_015443.4(KANSL1):c.1042C>T (p.Arg348Ter)	rs1427624649
NM_015443.4(KANSL1):c.1353G>A (p.Trp451Ter)
NM_015443.4(KANSL1):c.774_775insT (p.Gly259fs)

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