ClinVar Miner

List of variants in gene ACTB reported as pathogenic for not provided

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001101.5(ACTB):c.1020G>T (p.Trp340Cys) rs886041790
NM_001101.5(ACTB):c.1043C>T (p.Ser348Leu) rs886041309
NM_001101.5(ACTB):c.1078dup (p.Gln360fs) rs1562718649
NM_001101.5(ACTB):c.123+1G>A rs794729643
NM_001101.5(ACTB):c.127G>A (p.Val43Met) rs886041267
NM_001101.5(ACTB):c.143del (p.Gly48fs) rs1554329584
NM_001101.5(ACTB):c.329del (p.Leu110fs) rs1554329523
NM_001101.5(ACTB):c.349G>A (p.Glu117Lys) rs397515470
NM_001101.5(ACTB):c.353_356delinsTGAC (p.Lys118_Met119delinsMetThr) rs2128241387
NM_001101.5(ACTB):c.356T>C (p.Met119Thr) rs587779773
NM_001101.5(ACTB):c.454G>A (p.Val152Met) rs2128241296
NM_001101.5(ACTB):c.474_475dup (p.Val159fs) rs2128241293
NM_001101.5(ACTB):c.484A>G (p.Thr162Ala) rs2128241289
NM_001101.5(ACTB):c.547C>T (p.Arg183Trp) rs104894003
NM_001101.5(ACTB):c.559_562del (p.Asp187fs) rs886041265
NM_001101.5(ACTB):c.586C>G (p.Arg196Gly) rs281875333
NM_001101.5(ACTB):c.586C>T (p.Arg196Cys) rs281875333
NM_001101.5(ACTB):c.587G>A (p.Arg196His) rs281875334
NM_001101.5(ACTB):c.589G>A (p.Gly197Ser) rs1554329317
NM_001101.5(ACTB):c.616C>T (p.Arg206Trp) rs1057518071
NM_001101.5(ACTB):c.617G>A (p.Arg206Gln) rs886039472
NM_001101.5(ACTB):c.625G>A (p.Val209Met) rs587779777
NM_001101.5(ACTB):c.629G>A (p.Arg210His) rs1064793444
NM_001101.5(ACTB):c.773C>T (p.Pro258Leu) rs1554329281
NM_001101.5(ACTB):c.826G>A (p.Glu276Lys) rs1554329216
NM_001101.5(ACTB):c.905G>C (p.Gly302Ala)

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