ClinVar Miner

List of variants in gene COQ8A reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_020247.5(COQ8A):c.1053C>T (p.Gly351=) rs55958233 0.01103
NM_020247.5(COQ8A):c.67G>A (p.Val23Met) rs35582308 0.00058
NM_020247.5(COQ8A):c.730G>C (p.Gly244Arg) rs199619932 0.00048
NM_020247.5(COQ8A):c.626C>T (p.Thr209Met) rs764173526 0.00010
NM_020247.5(COQ8A):c.1285T>C (p.Tyr429His) rs2148132744

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