ClinVar Miner

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

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Total variants: 4
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HGVS dbSNP
NM_003482.3(KMT2D):c.12304C>T (p.Gln4102Ter) rs1555188129
NM_003482.3(KMT2D):c.13207_13208del (p.Asn4403fs) rs1555187577
NM_003482.3(KMT2D):c.6595del (p.Tyr2199fs) rs398123753
NM_003482.3(KMT2D):c.8366+1G>T rs1057518149

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