ClinVar Miner

List of variants in gene COQ8A reported by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_020247.5(COQ8A):c.638G>A (p.Arg213Gln) rs767584322 0.00003
NM_020247.5(COQ8A):c.1471T>A (p.Trp491Arg) rs1278938202
NM_020247.5(COQ8A):c.1625_1626del (p.Ile542fs) rs751637699

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