ClinVar Miner

List of variants in gene KMT2D reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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Total variants: 10
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 12q13.12(chr12:49433507-49437211)x1
NM_003482.4(KMT2D):c.15953_15956del (p.Leu5318fs) rs398123732
NM_003482.4(KMT2D):c.4406G>A (p.Trp1469Ter) rs1943798591
NM_003482.4(KMT2D):c.4843C>T (p.Arg1615Ter) rs1943714221
NM_003482.4(KMT2D):c.5627_5630del (p.Asp1876fs) rs1555193738
NM_003482.4(KMT2D):c.5753_5782+7delinsTCTTCA rs2120559513
NM_003482.4(KMT2D):c.6295C>T (p.Arg2099Ter) rs1452715535
NM_003482.4(KMT2D):c.6404T>A (p.Leu2135Ter) rs1943518455
NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs) rs398123753
NM_003482.4(KMT2D):c.721del (p.Leu241fs)

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