ClinVar Miner

List of variants in gene KMT2D reported as likely pathogenic by Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University

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Total variants: 6
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HGVS dbSNP
NM_003482.3(KMT2D):c.11800C>T (p.Gln3934Ter) rs1555188469
NM_003482.3(KMT2D):c.12268C>T (p.Gln4090Ter) rs1555188155
NM_003482.3(KMT2D):c.1329_1332del (p.Pro444fs) rs587783689
NM_003482.3(KMT2D):c.14515+1G>T rs1555186232
NM_003482.3(KMT2D):c.15920_15921insT (p.Leu5308fs) rs1555185301
NM_003482.3(KMT2D):c.5120_5121AC[2] (p.Arg1709fs) rs886043506

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