ClinVar Miner

List of variants in gene ACTB reported as likely pathogenic for Baraitser-Winter syndrome 1; Developmental malformations-deafness-dystonia syndrome

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001101.5(ACTB):c.158A>G (p.Tyr53Cys) rs2128241408
NM_001101.5(ACTB):c.219C>G (p.His73Gln)
NM_001101.5(ACTB):c.491C>A (p.Pro164His) rs1784814819
NM_001101.5(ACTB):c.598T>G (p.Phe200Val) rs2128241275

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