ClinVar Miner

List of variants in gene ACACA reported as likely benign by Mayo Clinic Laboratories, Mayo Clinic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_198834.3(ACACA):c.2082-10_2082-8dup rs147020148 0.01218
NM_198834.3(ACACA):c.547C>A (p.Arg183=) rs111441513 0.00408
NM_198834.3(ACACA):c.1009-3A>C rs184995115 0.00298
NM_198834.3(ACACA):c.6924G>A (p.Ala2308=) rs141608509 0.00298
NM_198834.3(ACACA):c.3475-10T>C rs192888791 0.00182
NM_198834.3(ACACA):c.4777-8dup rs149182938
NM_198834.3(ACACA):c.999T>C (p.Asp333=) rs1419961791

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