ClinVar Miner

List of variants in gene KMT2D reported as pathogenic by Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.14069_14075+1del rs1555186619
NM_003482.4(KMT2D):c.15143G>A (p.Arg5048His) rs886041404
NM_003482.4(KMT2D):c.16501C>T (p.Arg5501Ter) rs886041398

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