Variants in gene COQ8A with conflicting interpretations "pathogenic" and "uncertain significance"

Submission 1 (pathogenic) minimum review status:		Submission 1 (pathogenic) method:
Submission 2 (uncertain significance) minimum review status:		Submission 2 (uncertain significance) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 7

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HGVS	dbSNP	gnomAD frequency
NM_020247.5(COQ8A):c.1228C>T (p.Arg410Ter)	rs753254213	0.00004
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)	rs145034527	0.00004
NM_020247.5(COQ8A):c.812G>A (p.Arg271His)	rs765859566	0.00003
NM_020247.5(COQ8A):c.1805C>G (p.Pro602Arg)	rs61995958
NM_020247.5(COQ8A):c.1805C>T (p.Pro602Leu)	rs61995958
NM_020247.5(COQ8A):c.1806dup (p.Pro603fs)
NM_020247.5(COQ8A):c.1844dup (p.Ser616fs)	rs764847439

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