ClinVar Miner

List of variants in gene ACTG1 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001614.5(ACTG1):c.918C>T (p.Tyr306=) rs1139405 0.75861
NM_001614.5(ACTG1):c.399C>T (p.Tyr133=) rs2230158 0.01567
NM_001614.5(ACTG1):c.729C>T (p.Pro243=) rs2230159 0.01563
NM_001614.5(ACTG1):c.471C>T (p.Asp157=) rs11549222 0.00264
NM_001614.5(ACTG1):c.684C>T (p.Ala228=) rs143125497 0.00195
NM_001614.5(ACTG1):c.124-8C>T rs201279208
NM_001614.5(ACTG1):c.259C>T (p.His87Tyr) rs1568062594
NM_001614.5(ACTG1):c.492C>T (p.Pro164=) rs1207365676
NM_001614.5(ACTG1):c.985-5dup rs782289893

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