ClinVar Miner

List of variants in gene ACTG1 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: 6
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NM_001614.5(ACTG1):c.1000G>C (p.Glu334Gln)
NM_001614.5(ACTG1):c.1103C>T (p.Ser368Phe) rs1555666360
NM_001614.5(ACTG1):c.457A>G (p.Met153Val) rs1555666789
NM_001614.5(ACTG1):c.521C>G (p.Ala174Gly) rs727504862
NM_001614.5(ACTG1):c.654C>T (p.Tyr218=) rs182162229
NM_001614.5(ACTG1):c.773C>T (p.Pro258Leu)

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