List of variants reported as pathogenic for Developmental and epileptic encephalopathy, 76 by OMIM

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_016188.5(ACTL6B):c.1279del (p.Ter427AspextTer?)	rs998928845	0.00001
NM_016188.5(ACTL6B):c.893G>A (p.Arg298Gln)	rs1060499738	0.00001
NM_016188.5(ACTL6B):c.1045G>A (p.Gly349Ser)	rs955171017
NM_016188.5(ACTL6B):c.435CTT[2] (p.Phe147del)	rs772520618
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.999T>A (p.Cys333Ter)	rs1562848142

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