ClinVar Miner

List of variants in gene KMT2D reported by Daryl Scott Lab, Baylor College of Medicine

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.14923C>T (p.Arg4975Cys) rs781012274 0.00001
NM_003482.4(KMT2D):c.10018C>T (p.Gln3340Ter) rs2120477465
NM_003482.4(KMT2D):c.10258dup (p.Ile3420fs) rs1943140835
NM_003482.4(KMT2D):c.1035_1036del (p.Cys346fs)
NM_003482.4(KMT2D):c.12667C>T (p.Gln4223Ter) rs1555187956
NM_003482.4(KMT2D):c.13543dup (p.Arg4515fs) rs1942880441
NM_003482.4(KMT2D):c.1967del (p.Leu656fs) rs772870804
NM_003482.4(KMT2D):c.2186C>T (p.Pro729Leu) rs587778452
NM_003482.4(KMT2D):c.4419-1G>C
NM_003482.4(KMT2D):c.5104C>T (p.Arg1702Ter) rs886043414
NM_003482.4(KMT2D):c.7223dup (p.Ser2409fs) rs1943461604
NM_003482.4(KMT2D):c.7613dup (p.Gln2540fs) rs1943436869

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