List of variants reported as pathogenic for Developmental and epileptic encephalopathy 100 by OMIM

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
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.191T>G (p.Leu64Arg)	rs2102604634
NM_015176.4(FBXO28):c.972_973delinsG (p.Arg325fs)	rs2102638530

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