ClinVar Miner

List of variants in gene KMT2D reported as likely pathogenic for not provided

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Total variants: 19
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HGVS dbSNP
NM_003482.3(KMT2D):c.10356-12G>A rs1555189467
NM_003482.3(KMT2D):c.10574T>C (p.Leu3525Pro) rs1555189307
NM_003482.3(KMT2D):c.10740G>A (p.Gln3580=) rs398123700
NM_003482.3(KMT2D):c.10882C>G (p.Leu3628Val) rs773395827
NM_003482.3(KMT2D):c.11395C>T (p.Gln3799Ter) rs786205478
NM_003482.3(KMT2D):c.13032del (p.Lys4345fs) rs398123716
NM_003482.3(KMT2D):c.14382+1G>C rs1555186428
NM_003482.3(KMT2D):c.15104G>C (p.Cys5035Ser) rs398123723
NM_003482.3(KMT2D):c.15461G>A (p.Arg5154Gln) rs886043497
NM_003482.3(KMT2D):c.15467A>G (p.Tyr5156Cys) rs769483933
NM_003482.3(KMT2D):c.15641G>A (p.Arg5214His) rs398123729
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.2T>C (p.Met1Thr) rs1057520167
NM_003482.3(KMT2D):c.4342_4343TG[1] (p.Cys1448_Asp1449delinsTer) rs1064797168
NM_003482.3(KMT2D):c.49+2T>A rs767591619
NM_003482.3(KMT2D):c.571C>T (p.Arg191Trp) rs1555198522

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