ClinVar Miner

List of variants studied for Kleefstra syndrome 2 by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_170606.3(KMT2C):c.11899A>G (p.Lys3967Glu)
NM_170606.3(KMT2C):c.5150A>C (p.Lys1717Thr)
NM_170606.3(KMT2C):c.8849_8850del (p.His2950fs)

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