ClinVar Miner

List of variants studied for Coenzyme Q10 deficiency, primary, 1 by Revvity Omics, Revvity

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001358921.2(COQ2):c.-23C>G rs368891722 0.00013
NM_001358921.2(COQ2):c.-27C>T
NM_001358921.2(COQ2):c.254-2A>T
NM_001358921.2(COQ2):c.762+1G>A
NM_001358921.2(COQ2):c.762+1G>T rs767624218
NM_001358921.2(COQ2):c.889A>G (p.Ser297Gly)
NM_015697.9(COQ2):c.48dup (p.Ala17fs) rs767298430
NM_015697.9(COQ2):c.58C>T (p.Pro20Ser)

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