ClinVar Miner

List of variants in gene KMT2D reported as likely pathogenic for Kabuki syndrome

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Total variants: 17
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HGVS dbSNP
NC_000012.12:g.49025253_49030915del
NM_003482.3(KMT2D):c.10502T>G (p.Val3501Gly) rs1565781216
NM_003482.3(KMT2D):c.14076-2A>C rs1592110749
NM_003482.3(KMT2D):c.15230T>C (p.Leu5077Pro) rs398123726
NM_003482.3(KMT2D):c.15565G>A (p.Gly5189Arg) rs1555185701
NM_003482.3(KMT2D):c.15921+1G>A rs1555185299
NM_003482.3(KMT2D):c.16338+2T>C rs1555184777
NM_003482.3(KMT2D):c.16501C>T (p.Arg5501Ter) rs886041398
NM_003482.3(KMT2D):c.4222T>G (p.Cys1408Gly) rs1555195432
NM_003482.3(KMT2D):c.4237-2A>G rs797045001
NM_003482.3(KMT2D):c.4359C>G (p.His1453Gln) rs767737749
NM_003482.3(KMT2D):c.49+1del rs1565826250
NM_003482.3(KMT2D):c.5319+1G>A rs1057520722
NM_003482.3(KMT2D):c.5868-1G>A rs867333942
NM_003482.3(KMT2D):c.840-2A>G rs1555198201
NM_003482.4(KMT2D):c.15629A>G (p.Tyr5210Cys)
NM_003482.4(KMT2D):c.16338+1G>A

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