ClinVar Miner

List of variants in gene KMT2D reported as likely pathogenic by Shaikh Laboratory, University of Colorado

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.11796_11813del (p.Gln3934_Gln3939del) rs759803583
NM_003482.4(KMT2D):c.12688C>T (p.Gln4230Ter) rs793888511
NM_003482.4(KMT2D):c.14659G>T (p.Glu4887Ter) rs793888513
NM_003482.4(KMT2D):c.14732C>T (p.Pro4911Leu) rs183347186
NM_003482.4(KMT2D):c.15142C>T (p.Arg5048Cys) rs398123724
NM_003482.4(KMT2D):c.15235_15238del (p.Asn5079fs) rs793888514
NM_003482.4(KMT2D):c.16413-1G>C rs793888515
NM_003482.4(KMT2D):c.5908_5915del (p.Asp1970fs) rs398123751
NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs) rs398123753
NM_003482.4(KMT2D):c.7481dup (p.Ala2496fs) rs35584294
NM_003482.4(KMT2D):c.8743C>T (p.Arg2915Ter) rs587783729
NM_003482.4(KMT2D):c.9961C>T (p.Arg3321Ter) rs793888512

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