ClinVar Miner

List of variants in gene KMT2D reported as likely benign for Kabuki syndrome 1

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Total variants: 26
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HGVS dbSNP
NM_003482.3(KMT2D):c.10192A>G (p.Met3398Val) rs75937132
NM_003482.3(KMT2D):c.11044C>G (p.Gln3682Glu) rs1223171002
NM_003482.3(KMT2D):c.11141G>A (p.Arg3714Lys) rs186696516
NM_003482.3(KMT2D):c.11220_11222dupGCA (p.Gln3745_His3746insGln) rs398123707
NM_003482.3(KMT2D):c.11756_11758dup (p.Gln3919_Leu3920insGln) rs1555188499
NM_003482.3(KMT2D):c.12634C>T (p.Arg4212Trp) rs760279999
NM_003482.3(KMT2D):c.12697C>T (p.Gln4233Ter) rs1555187930
NM_003482.3(KMT2D):c.12935C>T (p.Ser4312Phe)
NM_003482.3(KMT2D):c.13045C>G (p.Pro4349Ala) rs181733689
NM_003482.3(KMT2D):c.2156C>T (p.Pro719Leu) rs185660524
NM_003482.3(KMT2D):c.2209C>T (p.Arg737Trp) rs539274614
NM_003482.3(KMT2D):c.2506C>A (p.Gln836Lys) rs200192746
NM_003482.3(KMT2D):c.2771C>T (p.Ser924Phe) rs768627183
NM_003482.3(KMT2D):c.4401C>T (p.Gly1467=) rs192659833
NM_003482.3(KMT2D):c.5189-13G>A rs375365635
NM_003482.3(KMT2D):c.5752C>T (p.Arg1918Cys) rs747722455
NM_003482.3(KMT2D):c.6437C>T (p.Pro2146Leu) rs563981206
NM_003482.3(KMT2D):c.6629C>T (p.Pro2210Leu) rs201190869
NM_003482.3(KMT2D):c.6643T>A (p.Ser2215Thr) rs200080744
NM_003482.3(KMT2D):c.6765G>A (p.Leu2255=) rs886037915
NM_003482.3(KMT2D):c.7136C>T (p.Ala2379Val) rs200842315
NM_003482.3(KMT2D):c.7451T>C (p.Leu2484Pro) rs1555192083
NM_003482.3(KMT2D):c.7589C>T (p.Thr2530Ile) rs773982820
NM_003482.3(KMT2D):c.7998C>A (p.Asp2666Glu) rs1258008817
NM_003482.3(KMT2D):c.9343C>T (p.Leu3115Phe) rs587778471
NM_003482.3(KMT2D):c.9439G>A (p.Ala3147Thr) rs1555190514

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