ClinVar Miner

List of variants in gene KMT2D reported as pathogenic by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 2
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HGVS dbSNP
NM_003482.3(KMT2D):c.6546dup (p.Tyr2183fs) rs1555192788
NM_003482.3(KMT2D):c.8214del (p.Phe2739fs) rs1565790685

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