ClinVar Miner

List of variants reported as likely pathogenic for ACTL6B-related recessive epilepsy

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Total variants: 14
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HGVS dbSNP
NM_016188.5(ACTL6B):c.1045G>A (p.Gly349Ser) rs955171017
NM_016188.5(ACTL6B):c.1231C>T (p.Gln411Ter) rs1584466163
NM_016188.5(ACTL6B):c.1275C>A (p.Cys425Ter) rs1584466132
NM_016188.5(ACTL6B):c.1279del (p.Ter427AspextTer?) rs998928845
NM_016188.5(ACTL6B):c.289C>T (p.Arg97Ter) rs929755522
NM_016188.5(ACTL6B):c.389G>A (p.Arg130Gln) rs757603505
NM_016188.5(ACTL6B):c.435CTT[2] (p.Phe147del) rs772520618
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.669+1G>A rs1584468817
NM_016188.5(ACTL6B):c.695del (p.Pro232fs) rs779550102
NM_016188.5(ACTL6B):c.724C>T (p.Gln242Ter) rs1562848568
NM_016188.5(ACTL6B):c.740G>A (p.Trp247Ter) rs1562848556
NM_016188.5(ACTL6B):c.852C>G (p.Tyr284Ter) rs141640000

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