ClinVar Miner

List of variants in gene KMT2D reported as likely benign by Genome Diagnostics Laboratory, University Medical Center Utrecht

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.10192A>G (p.Met3398Val) rs75937132 0.00847
NM_003482.4(KMT2D):c.3373C>T (p.Leu1125=) rs190643171 0.00062
NM_003482.4(KMT2D):c.14202C>T (p.Asp4734=) rs200979074 0.00029
NM_003482.4(KMT2D):c.8068C>T (p.Leu2690=) rs370846697 0.00019
NM_003482.4(KMT2D):c.4392C>A (p.Val1464=) rs758265897 0.00006
NM_003482.4(KMT2D):c.4986C>T (p.Cys1662=) rs143063879 0.00006
NM_003482.4(KMT2D):c.7904G>A (p.Arg2635Gln) rs200359477 0.00006
NM_003482.4(KMT2D):c.11202GCA[8] (p.Gln3745dup) rs398123707
NM_003482.4(KMT2D):c.11538C>T (p.Gly3846=) rs990458285
NM_003482.4(KMT2D):c.3392C>T (p.Pro1131Leu) rs201623566

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