ClinVar Miner

List of variants in gene KMT2D reported by Ambry Genetics

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Total variants: 20
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HGVS dbSNP
NM_003482.3(KMT2D):c.11124C>G (p.Ser3708Arg) rs773713199
NM_003482.3(KMT2D):c.11547_11557dup (p.Val3853Aspfs) 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.12874C>G (p.Pro4292Ala) rs1555187827
NM_003482.3(KMT2D):c.13005G>T (p.Gln4335His) rs1555187752
NM_003482.3(KMT2D):c.13411_13412delAA (p.Asn4471Cysfs) rs1555187440
NM_003482.3(KMT2D):c.13450C>T (p.Arg4484Ter) rs587783690
NM_003482.3(KMT2D):c.13986_13993dup (p.Leu4665Glnfs) rs1555186842
NM_003482.3(KMT2D):c.15080G>A (p.Arg5027Gln) rs774403945
NM_003482.3(KMT2D):c.15535C>T (p.Arg5179Cys) rs794727688
NM_003482.3(KMT2D):c.16336dup (p.Gln5446Profs) rs1555184787
NM_003482.3(KMT2D):c.16589G>A (p.Trp5530Ter) rs1555184538
NM_003482.3(KMT2D):c.3827G>A (p.Gly1276Glu) rs1555195988
NM_003482.3(KMT2D):c.4280G>A (p.Cys1427Tyr) rs1555195158
NM_003482.3(KMT2D):c.4485C>A (p.Tyr1495Ter) rs574622908
NM_003482.3(KMT2D):c.4941delC (p.Asp1648Metfs) rs1555194443
NM_003482.3(KMT2D):c.6295C>T (p.Arg2099Ter) rs1452715535
NM_003482.3(KMT2D):c.6510A>C (p.Gln2170His) rs753121118
NM_003482.3(KMT2D):c.70G>T (p.Glu24Ter) rs1555198910

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