List of variants reported as pathogenic for developmental and epileptic encephalopathy, 7 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_172107.4(KCNQ2):c.1022A>G (p.Gln341Arg)	rs2081071796
NM_172107.4(KCNQ2):c.1192_1193del (p.Lys398fs)	rs118192222
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp)	rs773171451
NM_172107.4(KCNQ2):c.593G>A (p.Arg198Gln)	rs796052621
NM_172107.4(KCNQ2):c.619C>T (p.Arg207Trp)	rs74315391
NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp)	rs118192203
NM_172107.4(KCNQ2):c.757G>T (p.Ala253Ser)	rs1057516093
NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser)	rs1057516099

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