ClinVar Miner

List of variants reported as pathogenic for Baraitser-Winter cerebrofrontofacial syndrome by Department of Genetics,Robert DEBRE University Hospital

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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NM_001101.5(ACTB):c.193C>T (p.Leu65Phe) rs281875332
NM_001101.5(ACTB):c.209C>T (p.Pro70Leu) rs587779769
NM_001101.5(ACTB):c.220G>A (p.Gly74Ser) rs587779770
NM_001101.5(ACTB):c.224T>C (p.Ile75Thr) rs587779771
NM_001101.5(ACTB):c.307G>C (p.Val103Leu) rs587779772
NM_001101.5(ACTB):c.349G>A (p.Glu117Lys) rs397515470
NM_001101.5(ACTB):c.34A>C (p.Asn12His) rs281875331
NM_001101.5(ACTB):c.356T>C (p.Met119Thr) rs587779773
NM_001101.5(ACTB):c.359C>T (p.Thr120Ile) rs587779774
NM_001101.5(ACTB):c.446C>T (p.Thr149Ile) rs587779775
NM_001101.5(ACTB):c.586C>A (p.Arg196Ser) rs281875333
NM_001101.5(ACTB):c.586C>T (p.Arg196Cys) rs281875333
NM_001101.5(ACTB):c.611C>G (p.Ala204Gly) rs587779776
NM_001101.5(ACTB):c.625G>A (p.Val209Met) rs587779777
NM_001614.5(ACTG1):c.404C>T (p.Ala135Val) rs11549190

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