ClinVar Miner

List of variants reported as likely pathogenic for Kleefstra syndrome 2 by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NC_000007.13:g.(151871328_151873275)_(151933019_151935791)del
NM_170606.3(KMT2C):c.13334G>A (p.Gly4445Asp)	rs2091357682
NM_170606.3(KMT2C):c.2961C>G (p.Tyr987Ter)	rs58528565

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