ClinVar Miner

List of variants in gene KMT2D reported as pathogenic by Center for Human Genetics, Inc

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Total variants: 16
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HGVS dbSNP
NM_003482.3(KMT2D):c.12592C>T (p.Arg4198Ter) rs587783685
NM_003482.3(KMT2D):c.1301del (p.Leu434fs) rs1555197738
NM_003482.3(KMT2D):c.13606C>T (p.Arg4536Ter) rs587783692
NM_003482.3(KMT2D):c.14878C>T (p.Arg4960Ter) rs1555185969
NM_003482.3(KMT2D):c.15461G>A (p.Arg5154Gln) rs886043497
NM_003482.3(KMT2D):c.15640C>T (p.Arg5214Cys) rs398123728
NM_003482.3(KMT2D):c.16295G>A (p.Arg5432Gln) rs398123734
NM_003482.3(KMT2D):c.16360C>T (p.Arg5454Ter) rs267607239
NM_003482.3(KMT2D):c.16437del (p.Asn5480fs) rs1555184635
NM_003482.3(KMT2D):c.16438_16441del (p.Asn5480fs) rs587783703
NM_003482.3(KMT2D):c.4163G>T (p.Arg1388Leu) rs202217665
NM_003482.3(KMT2D):c.4379del (p.Pro1460fs) rs1240601136
NM_003482.3(KMT2D):c.6295C>T (p.Arg2099Ter) rs1452715535
NM_003482.3(KMT2D):c.6595del (p.Tyr2199fs) rs398123753
NM_003482.3(KMT2D):c.7933C>T (p.Arg2645Ter) rs1555191740
NM_003482.3(KMT2D):c.8059C>T (p.Arg2687Ter) rs1555191598

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