ClinVar Miner

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

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Total variants: 18
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HGVS dbSNP
NM_003482.3(KMT2D):c.10192A>G (p.Met3398Val) rs75937132
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.12510A>G (p.Pro4170=) rs3741622
NM_003482.3(KMT2D):c.1426G>A (p.Ala476Thr) rs1064210
NM_003482.3(KMT2D):c.16412+16del rs34546217
NM_003482.3(KMT2D):c.16599G>A (p.Arg5533=) rs199798179
NM_003482.3(KMT2D):c.2826C>T (p.Ile942=) rs2241726
NM_003482.3(KMT2D):c.4724T>C (p.Met1575Thr) rs1555194803
NM_003482.3(KMT2D):c.5217C>T (p.Gly1739=) rs111924728
NM_003482.3(KMT2D):c.6807C>T (p.Ser2269=) rs73302197
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.7670C>T (p.Pro2557Leu) rs189888707
NM_003482.3(KMT2D):c.8091C>T (p.Arg2697=) rs116686402
NM_003482.4(KMT2D):c.4020+27A>G rs77395760
NM_003482.4(KMT2D):c.5549G>A (p.Gly1850Asp)
NM_003482.4(KMT2D):c.6235-32C>A rs371302554

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