ClinVar Miner

List of variants reported as likely benign for Baraitser-Winter cerebrofrontofacial syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_001101.5(ACTB):c.1011C>T (p.Tyr337=) rs748194756
NM_001101.5(ACTB):c.1107C>T (p.Ile369=) rs71531321
NM_001101.5(ACTB):c.198C>T (p.Thr66=) rs750565033
NM_001101.5(ACTB):c.264C>T (p.His88=) rs574137728
NM_001101.5(ACTB):c.474G>A (p.Gly158=) rs141472083
NM_001101.5(ACTB):c.669C>T (p.Phe223=) rs369943480
NM_001101.5(ACTB):c.882C>T (p.Tyr294=) rs774758801
NM_001614.5(ACTG1):c.364-8C>T rs201748657
NM_001614.5(ACTG1):c.802+10G>A rs1555666580
NM_001614.5(ACTG1):c.803-4C>T rs782608976
NM_001614.5(ACTG1):c.985-7dup rs782289893

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