ClinVar Miner

List of variants in gene KMT2D reported as uncertain significance by Athena Diagnostics Inc

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Total variants: 10
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HGVS dbSNP
NM_003482.3(KMT2D):c.12454C>T (p.Leu4152Phe) rs1555188088
NM_003482.3(KMT2D):c.13009C>G (p.Pro4337Ala) rs587778475
NM_003482.3(KMT2D):c.13118G>A (p.Gly4373Asp)
NM_003482.3(KMT2D):c.1342C>A (p.Pro448Thr) rs914611484
NM_003482.3(KMT2D):c.13465G>A (p.Gly4489Arg) rs200574556
NM_003482.3(KMT2D):c.1367C>T (p.Ser456Leu) rs750781052
NM_003482.3(KMT2D):c.15968G>A (p.Arg5323His) rs745599611
NM_003482.3(KMT2D):c.559C>T (p.Pro187Ser)
NM_003482.3(KMT2D):c.7998C>A (p.Asp2666Glu) rs1258008817
NM_003482.3(KMT2D):c.9837_9839GCA[5] (p.Gln3282dup)

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