ClinVar Miner

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

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Total variants: 32
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HGVS dbSNP
NM_003482.3(KMT2D):c.*1540A>G rs12315734
NM_003482.3(KMT2D):c.*2208T>C rs77945935
NM_003482.3(KMT2D):c.10671A>G (p.Pro3557=) rs61942218
NM_003482.3(KMT2D):c.10836G>A (p.Gln3612=) rs3782357
NM_003482.3(KMT2D):c.11610G>A (p.Met3870Ile) rs73302195
NM_003482.3(KMT2D):c.12028T>C (p.Ser4010Pro) rs80132640
NM_003482.3(KMT2D):c.12510A>G (p.Pro4170=) rs3741622
NM_003482.3(KMT2D):c.12867C>T (p.Leu4289=) rs202082835
NM_003482.3(KMT2D):c.13102A>G (p.Thr4368Ala) rs189357192
NM_003482.3(KMT2D):c.13644C>T (p.Ser4548=) rs201119371
NM_003482.3(KMT2D):c.13689C>T (p.Pro4563=) rs11168830
NM_003482.3(KMT2D):c.14238G>A (p.Arg4746=) rs75340924
NM_003482.3(KMT2D):c.1426G>A (p.Ala476Thr) rs1064210
NM_003482.3(KMT2D):c.15978T>G (p.Leu5326=) rs55776396
NM_003482.3(KMT2D):c.1938C>G (p.Pro646=) rs147212187
NM_003482.3(KMT2D):c.2052T>A (p.Pro684=) rs200116899
NM_003482.3(KMT2D):c.2438C>T (p.Pro813Leu) rs75226229
NM_003482.3(KMT2D):c.248G>A (p.Arg83Gln) rs55865069
NM_003482.3(KMT2D):c.2826C>T (p.Ile942=) rs2241726
NM_003482.3(KMT2D):c.4021-11_4021-10delCT rs55776244
NM_003482.3(KMT2D):c.5217C>T (p.Gly1739=) rs111924728
NM_003482.3(KMT2D):c.6180C>T (p.Tyr2060=) rs186577948
NM_003482.3(KMT2D):c.6573G>A (p.Thr2191=) rs202085637
NM_003482.3(KMT2D):c.6752C>T (p.Ser2251Leu) rs189199944
NM_003482.3(KMT2D):c.6807C>T (p.Ser2269=) rs73302197
NM_003482.3(KMT2D):c.7144C>T (p.Pro2382Ser) rs3741626
NM_003482.3(KMT2D):c.7188T>C (p.Cys2396=) rs111305262
NM_003482.3(KMT2D):c.7479G>T (p.Gly2493=) rs10747559
NM_003482.3(KMT2D):c.7572G>A (p.Thr2524=) rs772878105
NM_003482.3(KMT2D):c.7670C>T (p.Pro2557Leu) rs189888707
NM_003482.3(KMT2D):c.8091C>T (p.Arg2697=) rs116686402
NM_003482.3(KMT2D):c.8148_8149delinsCT (p.Pro2717Ser) rs398123761

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