ClinVar Miner

List of variants in gene KMT2D reported as pathogenic by Institute of Human Genetics,University of Goettingen

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Total variants: 2
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HGVS dbSNP
NM_003482.3(KMT2D):c.10810C>T (p.Gln3604Ter) rs1060499552
NM_003482.3(KMT2D):c.466G>T (p.Glu156Ter) rs1057519422

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