List of variants in gene KANSL1 reported as not provided for Koolen-de Vries syndrome

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_015443.4(KANSL1):c.1652+1G>A	rs281865470
NM_015443.4(KANSL1):c.1816C>T (p.Arg606Ter)	rs281865469
NM_015443.4(KANSL1):c.1867_1870del (p.Ile623fs)	rs281865472
NM_015443.4(KANSL1):c.2785_2786del (p.Arg929fs)	rs281865471
NM_015443.4(KANSL1):c.2837+2T>C	rs975947508
NM_015443.4(KANSL1):c.611dup (p.Met205fs)
NM_015443.4(KANSL1):c.916C>T (p.Gln306Ter)	rs281865468
NM_015443.4(KANSL1):c.985_986del (p.Leu329fs)	rs281865473

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