ClinVar Miner

List of variants in gene ACTL6B studied for complex neurodevelopmental disorder

Included ClinVar conditions (295):
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Gene type:
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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_016188.5(ACTL6B):c.*98T>A rs1052897 0.88580
NM_016188.5(ACTL6B):c.1177G>A (p.Gly393Arg) rs986702153 0.00001
NM_016188.5(ACTL6B):c.1225del (p.Ser409fs) rs774562545 0.00001
NM_016188.5(ACTL6B):c.1275C>A (p.Cys425Ter) rs1584466132 0.00001
NM_016188.5(ACTL6B):c.1279del (p.Ter427AspextTer?) rs998928845 0.00001
NM_016188.5(ACTL6B):c.389G>A (p.Arg130Gln) rs757603505 0.00001
NM_016188.5(ACTL6B):c.740G>A (p.Trp247Ter) rs1562848556 0.00001
NM_016188.5(ACTL6B):c.893G>A (p.Arg298Gln) rs1060499738 0.00001
NM_016188.5(ACTL6B):c.1000G>C (p.Asp334His) rs1803830368
NM_016188.5(ACTL6B):c.1016C>T (p.Pro339Leu)
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg) rs1131692228
NM_016188.5(ACTL6B):c.1045G>A (p.Gly349Ser) rs955171017
NM_016188.5(ACTL6B):c.1087C>T (p.Arg363Ter) rs755138493
NM_016188.5(ACTL6B):c.1114-1G>A
NM_016188.5(ACTL6B):c.1120C>T (p.Arg374Ter)
NM_016188.5(ACTL6B):c.1219T>C (p.Trp407Arg) rs2131330754
NM_016188.5(ACTL6B):c.1249G>T (p.Gly417Trp) rs746964903
NM_016188.5(ACTL6B):c.1267C>T (p.Arg423Ter)
NM_016188.5(ACTL6B):c.230A>G (p.Asp77Gly) rs1562851259
NM_016188.5(ACTL6B):c.279G>A (p.Trp93Ter)
NM_016188.5(ACTL6B):c.289C>T (p.Arg97Ter) rs929755522
NM_016188.5(ACTL6B):c.369+1G>C
NM_016188.5(ACTL6B):c.370-1G>A
NM_016188.5(ACTL6B):c.435CTT[2] (p.Phe147del) rs772520618
NM_016188.5(ACTL6B):c.460C>T (p.Leu154Phe) rs2131335751
NM_016188.5(ACTL6B):c.465del (p.Ala156fs) rs2131335747
NM_016188.5(ACTL6B):c.497T>C (p.Val166Ala)
NM_016188.5(ACTL6B):c.523A>C (p.Thr175Pro) rs2131334872
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.628del (p.Met210fs)
NM_016188.5(ACTL6B):c.695C>G (p.Pro232Arg)
NM_016188.5(ACTL6B):c.695del (p.Pro232fs) rs779550102
NM_016188.5(ACTL6B):c.695dup (p.Asn233fs)
NM_016188.5(ACTL6B):c.703AAG[2] (p.Lys237del)
NM_016188.5(ACTL6B):c.70C>T (p.Arg24Cys)
NM_016188.5(ACTL6B):c.724C>T (p.Gln242Ter) rs1562848568
NM_016188.5(ACTL6B):c.760-1G>A
NM_016188.5(ACTL6B):c.820C>T (p.Gln274Ter) rs1562848425
NM_016188.5(ACTL6B):c.832C>T (p.Gln278Ter)
NM_016188.5(ACTL6B):c.852C>G (p.Tyr284Ter) rs141640000
NM_016188.5(ACTL6B):c.85G>A (p.Gly29Arg)
NM_016188.5(ACTL6B):c.880T>G (p.Tyr294Asp)
NM_016188.5(ACTL6B):c.884G>A (p.Gly295Asp)
NM_016188.5(ACTL6B):c.889G>A (p.Glu297Lys) rs1803836293
NM_016188.5(ACTL6B):c.892C>T (p.Arg298Ter) rs2131333638
NM_016188.5(ACTL6B):c.999T>A (p.Cys333Ter) rs1562848142

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