ClinVar Miner

List of variants in gene ACTG1 reported as benign for Baraitser-Winter cerebrofrontofacial syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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NM_001614.5(ACTG1):c.39C>T (p.Gly13=) rs146865914
NM_001614.5(ACTG1):c.471C>T (p.Asp157=) rs11549222
NM_001614.5(ACTG1):c.714G>A (p.Lys238=) rs11549173
NM_001614.5(ACTG1):c.985-5T>C rs370546734

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