List of variants reported as likely pathogenic for Developmental and epileptic encephalopathy, 25 by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met)	rs587777577	0.00004
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter)	rs773770609	0.00003
NM_177550.5(SLC13A5):c.1022G>A (p.Trp341Ter)	rs150203483	0.00001
NM_177550.5(SLC13A5):c.1280C>T (p.Ser427Leu)	rs548065551	0.00001
NM_177550.5(SLC13A5):c.1514C>T (p.Pro505Leu)	rs936922976	0.00001
NM_177550.5(SLC13A5):c.425C>T (p.Thr142Met)	rs761917087	0.00001

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