ClinVar Miner

List of variants in gene KMT2D reported as pathogenic by Ambry Genetics

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Total variants: 11
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HGVS dbSNP
NM_003482.3(KMT2D):c.11547_11557dup (p.Val3853fs) rs1555188623
NM_003482.3(KMT2D):c.11944C>T (p.Arg3982Ter) rs1555188379
NM_003482.3(KMT2D):c.12592C>T (p.Arg4198Ter) rs587783685
NM_003482.3(KMT2D):c.13411_13412del (p.Asn4471fs) rs1555187440
NM_003482.3(KMT2D):c.13450C>T (p.Arg4484Ter) rs587783690
NM_003482.3(KMT2D):c.13986_13993dup (p.Leu4665fs) rs1555186842
NM_003482.3(KMT2D):c.15535C>T (p.Arg5179Cys) rs794727688
NM_003482.3(KMT2D):c.16336dup (p.Gln5446fs) rs1555184787
NM_003482.3(KMT2D):c.4485C>A (p.Tyr1495Ter) rs574622908
NM_003482.3(KMT2D):c.4941del (p.Asp1648fs) rs1555194443
NM_003482.3(KMT2D):c.6295C>T (p.Arg2099Ter) rs1452715535

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