List of variants reported as likely pathogenic for developmental and epileptic encephalopathy, 76 by SIB Swiss Institute of Bioinformatics

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_016188.5(ACTL6B):c.740G>A (p.Trp247Ter)	rs1562848556	0.00001
NM_016188.5(ACTL6B):c.1045G>A (p.Gly349Ser)	rs955171017
NM_016188.5(ACTL6B):c.289C>T (p.Arg97Ter)	rs929755522
NM_016188.5(ACTL6B):c.556C>T (p.Gln186Ter)	rs1584468891
NM_016188.5(ACTL6B):c.617T>C (p.Leu206Pro)	rs1562848909
NM_016188.5(ACTL6B):c.724C>T (p.Gln242Ter)	rs1562848568
NM_016188.5(ACTL6B):c.820C>T (p.Gln274Ter)	rs1562848425
NM_016188.5(ACTL6B):c.852C>G (p.Tyr284Ter)	rs141640000

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