ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy 100

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_015176.4(FBXO28):c.1016_1017delinsT (p.Gly339fs) rs2527209619
NM_015176.4(FBXO28):c.1027G>T (p.Glu343Ter)
NM_015176.4(FBXO28):c.1042C>G (p.Arg348Gly) rs2102638590
NM_015176.4(FBXO28):c.1043G>T (p.Arg348Leu) rs1553292987
NM_015176.4(FBXO28):c.1066_1067del (p.Asp356fs) rs2102638612
NM_015176.4(FBXO28):c.1078A>T (p.Lys360Ter) rs2102638631
NM_015176.4(FBXO28):c.13_14delinsAA (p.Ala5Lys) rs2527104493
NM_015176.4(FBXO28):c.191T>G (p.Leu64Arg) rs2102604634
NM_015176.4(FBXO28):c.196G>C (p.Ala66Pro)
NM_015176.4(FBXO28):c.517-4T>A
NM_015176.4(FBXO28):c.972_973delinsG (p.Arg325fs) rs2102638530

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