ClinVar Miner

List of variants reported as pathogenic for Koolen-de Vries syndrome by SIB Swiss Institute of Bioinformatics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_015443.4(KANSL1):c.1042C>T (p.Arg348Ter) rs1427624649
NM_015443.4(KANSL1):c.1816C>T (p.Arg606Ter) rs281865469
NM_015443.4(KANSL1):c.916C>T (p.Gln306Ter) rs281865468

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