ClinVar Miner

List of variants in gene KMT2D reported as likely pathogenic by GeneDx

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Total variants: 9
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NM_003482.3(KMT2D):c.10356-12G>A rs1555189467
NM_003482.3(KMT2D):c.10574T>C (p.Leu3525Pro) rs1555189307
NM_003482.3(KMT2D):c.15467A>G (p.Tyr5156Cys) rs769483933
NM_003482.3(KMT2D):c.15785-10T>G rs1555185358
NM_003482.3(KMT2D):c.15854C>G (p.Pro5285Arg) rs1555185337
NM_003482.3(KMT2D):c.16012T>C (p.Cys5338Arg) rs1057524689
NM_003482.3(KMT2D):c.16412G>A (p.Arg5471Lys) rs1555184684
NM_003482.3(KMT2D):c.49+2T>A rs767591619
NM_003482.3(KMT2D):c.571C>T (p.Arg191Trp) rs1555198522

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