ClinVar Miner

List of variants in gene COQ4 reported as benign for Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_016035.5(COQ4):c.533-17A>C rs7850697 0.34637
NM_016035.5(COQ4):c.318G>A (p.Ser106=) rs2270203 0.09525
NM_016035.5(COQ4):c.59G>A (p.Arg20Gln) rs9697215 0.04933
NM_016035.5(COQ4):c.483G>C (p.Glu161Asp) rs141228574 0.00541
NM_016035.5(COQ4):c.614G>A (p.Arg205Gln) rs35213511 0.00411
NM_016035.5(COQ4):c.424G>A (p.Ala142Thr) rs34043652 0.00268
NM_016035.5(COQ4):c.48G>C (p.Pro16=) rs375750495 0.00120
NM_016035.5(COQ4):c.96C>A (p.Asp32Glu) rs545007629 0.00029

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