ClinVar Miner

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

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Total variants: 6
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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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