ClinVar Miner

List of variants in gene ACTL6B reported as pathogenic for complex neurodevelopmental disorder

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_016188.5(ACTL6B):c.1177G>A (p.Gly393Arg) rs986702153 0.00001
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.1087C>T (p.Arg363Ter) rs755138493
NM_016188.5(ACTL6B):c.1114-1G>A
NM_016188.5(ACTL6B):c.1249G>T (p.Gly417Trp) rs746964903
NM_016188.5(ACTL6B):c.1267C>T (p.Arg423Ter)
NM_016188.5(ACTL6B):c.279G>A (p.Trp93Ter)
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.523A>C (p.Thr175Pro) rs2131334872
NM_016188.5(ACTL6B):c.617T>C (p.Leu206Pro) rs1562848909
NM_016188.5(ACTL6B):c.628del (p.Met210fs)
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.724C>T (p.Gln242Ter) rs1562848568
NM_016188.5(ACTL6B):c.820C>T (p.Gln274Ter) rs1562848425
NM_016188.5(ACTL6B):c.832C>T (p.Gln278Ter)
NM_016188.5(ACTL6B):c.892C>T (p.Arg298Ter) rs2131333638
NM_016188.5(ACTL6B):c.999T>A (p.Cys333Ter) rs1562848142

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