ClinVar Miner

List of variants in gene KMT2D reported as uncertain significance by Mendelics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.14893G>A (p.Ala4965Thr) rs200747934 0.00006
NM_003482.4(KMT2D):c.13259G>A (p.Arg4420Gln) rs375999143 0.00004
NM_003482.4(KMT2D):c.11796_11813del (p.Gln3934_Gln3939del) rs759803583
NM_003482.4(KMT2D):c.14529G>T (p.Lys4843Asn) rs764121956
NM_003482.4(KMT2D):c.2471T>G (p.Leu824Trp) rs2120665449
NM_003482.4(KMT2D):c.3392C>T (p.Pro1131Leu) rs201623566
NM_003482.4(KMT2D):c.4163G>T (p.Arg1388Leu) rs202217665
NM_003482.4(KMT2D):c.9822GCA[5] (p.Gln3282dup) rs768814728

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