ClinVar Miner

List of variants in gene ACTB reported as pathogenic for Baraitser-Winter cerebrofrontofacial syndrome

Included ClinVar conditions (4):
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Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP
NM_001101.3(ACTB):c.220G>A (p.Gly74Ser) rs587779770
NM_001101.3(ACTB):c.224T>C (p.Ile75Thr) rs587779771
NM_001101.3(ACTB):c.586C>T (p.Arg196Cys) rs281875333
NM_001101.3(ACTB):c.587G>A (p.Arg196His) rs281875334
NM_001101.4(ACTB):c.1090G>A (p.Glu364Lys) rs368352689
NM_001101.4(ACTB):c.1117A>T (p.Lys373Ter) rs1554329068
NM_001101.4(ACTB):c.193C>G (p.Leu65Val) rs281875332
NM_001101.4(ACTB):c.193C>T (p.Leu65Phe) rs281875332
NM_001101.4(ACTB):c.209C>T (p.Pro70Leu) rs587779769
NM_001101.4(ACTB):c.307G>C (p.Val103Leu) rs587779772
NM_001101.4(ACTB):c.329del (p.Leu110Argfs) rs1554329523
NM_001101.4(ACTB):c.349G>A (p.Glu117Lys) rs397515470
NM_001101.4(ACTB):c.34A>C (p.Asn12His) rs281875331
NM_001101.4(ACTB):c.34A>G (p.Asn12Asp) rs281875331
NM_001101.4(ACTB):c.350A>T (p.Glu117Val) rs1554329516
NM_001101.4(ACTB):c.351G>T (p.Glu117Asp) rs765265404
NM_001101.4(ACTB):c.356T>C (p.Met119Thr) rs587779773
NM_001101.4(ACTB):c.359C>T (p.Thr120Ile) rs587779774
NM_001101.4(ACTB):c.446C>T (p.Thr149Ile) rs587779775
NM_001101.4(ACTB):c.586C>A (p.Arg196Ser) rs281875333
NM_001101.4(ACTB):c.611C>G (p.Ala204Gly) rs587779776
NM_001101.4(ACTB):c.625G>A (p.Val209Met) rs587779777
NM_001101.4(ACTB):c.802G>C (p.Gly268Arg) rs1554329269
NM_001101.5(ACTB):c.1097dup (p.Ser368Leufs) rs1554329078
NM_001101.5(ACTB):c.547C>T (p.Arg183Trp) rs104894003

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