ClinVar Miner

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

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Total variants: 8
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HGVS dbSNP
NM_003482.3(KMT2D):c.10502T>G (p.Val3501Gly)
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.4237-2A>G rs797045001
NM_003482.3(KMT2D):c.4359C>G (p.His1453Gln)
NM_003482.3(KMT2D):c.49+1delG
NM_003482.3(KMT2D):c.840-2A>G rs1555198201

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