ClinVar Miner

List of variants in gene COQ9 reported as benign for Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_020312.4(COQ9):c.*490T>C rs223870 0.97466
NM_020312.4(COQ9):c.*456C>A rs223869 0.11358
NM_020312.4(COQ9):c.102G>A (p.Pro34=) rs223864 0.02864
NM_020312.4(COQ9):c.*411C>T rs112075830 0.01875
NM_020312.4(COQ9):c.864G>C (p.Lys288Asn) rs61730662 0.01742
NM_020312.4(COQ9):c.921+13C>T rs115677652 0.01317
NM_020312.4(COQ9):c.79C>G (p.Arg27Gly) rs140264612

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