List of variants reported as likely pathogenic for Neonatal-onset encephalopathy with rigidity and seizures

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Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_152743.4(BRAT1):c.283-2A>T	rs147005619	0.00006
NM_152743.4(BRAT1):c.1925C>A (p.Ala642Glu)	rs200502048	0.00002
NM_152743.4(BRAT1):c.1598-1G>A	rs1778960981	0.00001
NM_152743.4(BRAT1):c.283-1G>A	rs1372330259	0.00001
NC_000007.13:g.(?_2580991)_(2581540_?)del
NM_152743.4(BRAT1):c.1015+1G>T
NM_152743.4(BRAT1):c.1016-1G>C	rs2534355921
NM_152743.4(BRAT1):c.1135-1G>T	rs1470556890
NM_152743.4(BRAT1):c.1322-2A>G	rs2128390167
NM_152743.4(BRAT1):c.1371_1395+16del	rs1224820591
NM_152743.4(BRAT1):c.1395+2T>A	rs1779105755
NM_152743.4(BRAT1):c.1499-1G>T	rs1778987915
NM_152743.4(BRAT1):c.1710del (p.Gln571fs)	rs756489141
NM_152743.4(BRAT1):c.196C>T (p.Gln66Ter)	rs766106194
NM_152743.4(BRAT1):c.283-2A>G	rs147005619
NM_152743.4(BRAT1):c.394_423dup (p.Ala141_Asp142insGlnHisProSerAlaLeuArgPheLeuAla)	rs2534411900
NM_152743.4(BRAT1):c.804-1G>T	rs2534380464
NM_152743.4(BRAT1):c.856dup (p.Ala286fs)
NM_152743.4(BRAT1):c.923+1G>A
NM_152743.4(BRAT1):c.924-1G>A	rs2534363105

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