List of variants in gene COQ8A reported as likely benign by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_020247.5(COQ8A):c.1573-20C>G	rs2297416	0.38143
NM_020247.5(COQ8A):c.1053C>T (p.Gly351=)	rs55958233	0.01103
NM_020247.5(COQ8A):c.1185C>T (p.Ile395=)	rs17849927	0.00488
NM_020247.5(COQ8A):c.384C>T (p.Ala128=)	rs139970507	0.00250
NM_020247.5(COQ8A):c.948C>T (p.Leu316=)	rs55637780	0.00229
NM_020247.5(COQ8A):c.1188C>T (p.Asp396=)	rs139133094	0.00026
NM_020247.5(COQ8A):c.564C>T (p.Pro188=)	rs140897240	0.00002

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