List of variants reported as likely pathogenic for Developmental and epileptic encephalopathy, 50 by Fulgent Genetics, Fulgent Genetics

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_004341.5(CAD):c.5429G>A (p.Arg1810Gln)	rs139332887	0.00028
NM_004341.5(CAD):c.2834_2835del (p.Ile945fs)
NM_004341.5(CAD):c.4810C>T (p.Gln1604Ter)	rs1676113645
NM_004341.5(CAD):c.5063-1G>A
NM_004341.5(CAD):c.5063-2A>G
NM_004341.5(CAD):c.5594-1G>A
NM_004341.5(CAD):c.5737dup (p.Gln1913fs)	rs1159635090
NM_004341.5(CAD):c.656T>A (p.Leu219Ter)

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