List of variants in gene KANSL1 reported as likely pathogenic for Koolen-de Vries syndrome

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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: 6

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HGVS	dbSNP
NM_001193466.2(KANSL1):c.1463dup (p.Glu489fs)	rs1555753569
NM_001193466.2(KANSL1):c.3125del (p.Leu1042fs)	rs797045049
NM_001193466.2(KANSL1):c.876del (p.Asp293fs)	rs1597872089
NM_001193466.2(KANSL1):c.985_995del (p.Leu329fs)	rs1057518659
NM_015443.4(KANSL1):c.1768_1769delinsAG (p.Ala590Arg)
NM_015443.4(KANSL1):c.2902C>T (p.Gln968Ter)

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