ClinVar Miner

List of variants reported as pathogenic for Kleefstra syndrome 2 by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_170606.3(KMT2C):c.1951_1952del (p.Glu651fs) rs1588571802

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