ClinVar Miner

List of variants in gene ACACA studied for acetyl-coa carboxylase deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_198834.3(ACACA):c.1923G>A (p.Gln641=) rs2229416 0.11510
NM_198834.3(ACACA):c.6923C>T (p.Ala2308Val) rs146351326 0.00020
NM_198834.3(ACACA):c.4642G>A (p.Ala1548Thr) rs1598113980
NM_198834.3(ACACA):c.4969G>A (p.Ala1657Thr)
NM_198834.3(ACACA):c.6592C>T (p.Arg2198Trp)
NM_198834.3(ACACA):c.6641C>A (p.Pro2214His)

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