ClinVar Miner

List of variants reported as uncertain significance for Baraitser-Winter cerebrofrontofacial syndrome by Division of Human Genetics,Children's Hospital of Philadelphia

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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NM_001101.4(ACTB):c.123+1G>A rs794729643
NM_001614.4(ACTG1):c.521C>G (p.Ala174Gly) rs727504862

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