List of variants reported as uncertain significance for childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy by New York Genome Center

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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.830G>A (p.Arg277His)	rs752396911	0.00006
NM_001271.4(CHD2):c.5036G>A (p.Arg1679Gln)	rs373039868	0.00004
NM_003042.4(SLC6A1):c.31G>A (p.Gly11Arg)	rs1264567694	0.00003
NM_003042.4(SLC6A1):c.582-3C>T	rs368174761	0.00001
NM_004408.4(DNM1):c.1558-3C>T	rs546517702	0.00001
NM_000814.6(GABRB3):c.424C>T (p.Arg142Cys)	rs1892475061
NM_000814.6(GABRB3):c.666TGT[1] (p.Val224del)	rs2140730286
NM_000814.6(GABRB3):c.791C>T (p.Ser264Phe)	rs2140696672
NM_001271.4(CHD2):c.2189+8C>T	rs1486555733
NM_001271.4(CHD2):c.5126A>T (p.His1709Leu)	rs1172858416
NM_001271.4(CHD2):c.878G>A (p.Ser293Asn)	rs1555439526
NM_003042.4(SLC6A1):c.1477T>C (p.Cys493Arg)	rs2124942534
NM_003042.4(SLC6A1):c.97A>G (p.Lys33Glu)	rs1334690406
NM_004408.4(DNM1):c.2535-613C>T	rs1385389663
NM_021912.5(GABRB3):c.11G>T (p.Gly4Val)	rs1356927141

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