ClinVar Miner

List of variants in gene ACTB reported as uncertain significance 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.1078dup (p.Gln360fs) rs1562718649
NM_001101.5(ACTB):c.123+1G>A rs794729643
NM_001101.5(ACTB):c.124-3C>T rs1189379541
NM_001101.5(ACTB):c.180C>T (p.Ser60=)
NM_001101.5(ACTB):c.27C>A (p.Val9=)
NM_001101.5(ACTB):c.307G>C (p.Val103Leu) rs587779772
NM_001101.5(ACTB):c.44G>C (p.Gly15Ala) rs865913177
NM_001101.5(ACTB):c.609G>A (p.Thr203=)
NM_001101.5(ACTB):c.686C>T (p.Thr229Met) rs1464535596
NM_001101.5(ACTB):c.943_945del (p.Lys315del)

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