ClinVar Miner

List of variants in gene KMT2D reported as uncertain significance by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.10379A>G (p.Gln3460Arg) rs1943129038
NM_003482.4(KMT2D):c.2426A>C (p.Gln809Pro) rs1398110011
NM_003482.4(KMT2D):c.4307C>T (p.Ala1436Val) rs2120611836
NM_003482.4(KMT2D):c.7538G>A (p.Gly2513Glu) rs1943441906
NM_003482.4(KMT2D):c.7883T>C (p.Leu2628Pro) rs1943413102

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