ClinVar Miner

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

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_001101.5(ACTB):c.1013C>T (p.Ser338Phe) rs1554329113
NM_001101.5(ACTB):c.113C>T (p.Pro38Leu) rs1554329646
NM_001101.5(ACTB):c.19G>A (p.Ala7Thr) rs1562720119
NM_001101.5(ACTB):c.217C>T (p.His73Tyr) rs786205585
NM_001101.5(ACTB):c.219C>G (p.His73Gln) rs1166509821
NM_001101.5(ACTB):c.269_271del (p.Phe90del) rs1554329546
NM_001101.5(ACTB):c.527T>C (p.Leu176Pro) rs1554329331
NM_001101.5(ACTB):c.625G>A (p.Val209Met) rs587779777
NM_001101.5(ACTB):c.64G>A (p.Ala22Thr) rs587780273
NM_001101.5(ACTB):c.82C>G (p.Arg28Gly) rs886041270

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