ClinVar Miner

List of variants in gene KMT2D reported as likely pathogenic by Autoinflammatory diseases unit, CHU de Montpellier

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.15797G>A (p.Arg5266His) rs201481646 0.00053
NM_003482.4(KMT2D):c.10357C>T (p.Gln3453Ter) rs1943129966
NM_003482.4(KMT2D):c.1259-14T>A rs199555464
NM_003482.4(KMT2D):c.13660C>T (p.Gln4554Ter) rs1942873615
NM_003482.4(KMT2D):c.14020_14030delinsA (p.Leu4674fs) rs1942777752
NM_003482.4(KMT2D):c.14249del (p.Pro4750fs) rs1942753340
NM_003482.4(KMT2D):c.14873C>G (p.Ser4958Ter) rs1942637043
NM_003482.4(KMT2D):c.15110AGG[1] (p.Glu5038del) rs1942619753
NM_003482.4(KMT2D):c.15176A>G (p.His5059Arg) rs1942615651
NM_003482.4(KMT2D):c.15536G>T (p.Arg5179Leu) rs267607237
NM_003482.4(KMT2D):c.15544G>C (p.Gly5182Arg) rs1942591901
NM_003482.4(KMT2D):c.16412+5G>C rs1942367824
NM_003482.4(KMT2D):c.296del (p.Pro99fs) rs1938292099
NM_003482.4(KMT2D):c.4171G>A (p.Glu1391Lys) rs1937658910
NM_003482.4(KMT2D):c.4520G>A (p.Cys1507Tyr) rs1943783240
NM_003482.4(KMT2D):c.4741+257_6959del
NM_003482.4(KMT2D):c.6114G>A (p.Trp2038Ter) rs1592138822
NM_003482.4(KMT2D):c.6354dup (p.Ala2119fs) rs755159728
NM_003482.4(KMT2D):c.9145C>G (p.Leu3049Val) rs1051646314

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