ClinVar Miner

List of variants in gene KMT2D reported by Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals

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Total variants: 4
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HGVS dbSNP
NM_003482.3(KMT2D):c.14069_14075+1delATGTCAGG rs1555186619
NM_003482.3(KMT2D):c.15143G>A (p.Arg5048His) rs886041404
NM_003482.3(KMT2D):c.16501C>T (p.Arg5501Ter) rs886041398
NM_003482.3(KMT2D):c.9306del (p.Ala3103fs) rs1555190635

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