List of variants reported as uncertain significance for childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy by Fulgent Genetics, Fulgent Genetics

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His)	rs191293931	0.00026
NM_003042.4(SLC6A1):c.1436G>A (p.Arg479Gln)	rs771439149	0.00006
NM_001271.4(CHD2):c.4061G>A (p.Arg1354Lys)	rs370160870	0.00004
NM_001271.4(CHD2):c.5069G>A (p.Arg1690Gln)	rs564787975	0.00004
NM_000814.6(GABRB3):c.292G>A (p.Ala98Thr)	rs756369937	0.00003
NM_000814.6(GABRB3):c.557C>T (p.Thr186Met)	rs769801846	0.00003
NM_001271.4(CHD2):c.881G>T (p.Gly294Val)	rs771390521	0.00003
NM_001271.4(CHD2):c.4481A>G (p.Asn1494Ser)	rs913833972	0.00001
NM_001271.4(CHD2):c.5242C>T (p.Arg1748Cys)	rs767099765	0.00001
NM_001271.4(CHD2):c.826G>A (p.Ala276Thr)	rs375521197	0.00001
NM_004408.4(DNM1):c.650G>A (p.Arg217His)	rs753953686	0.00001
NM_000814.6(GABRB3):c.1042A>G (p.Lys348Glu)
NM_001271.4(CHD2):c.2973G>A (p.Gln991=)	rs903186613
NM_001271.4(CHD2):c.625G>C (p.Asp209His)
NM_003042.4(SLC6A1):c.152T>A (p.Phe51Tyr)	rs1553687887
NM_004408.4(DNM1):c.1402G>A (p.Glu468Lys)

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