List of variants in gene COQ8A reported as likely benign for autosomal recessive ataxia due to ubiquinone deficiency

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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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.291C>T (p.Ser97=)	rs111529228	0.00567
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.298G>T (p.Asp100Tyr)	rs150696959	0.00153
NM_020247.5(COQ8A):c.1824C>T (p.Ser608=)	rs141270350	0.00152
NM_020247.5(COQ8A):c.1797C>T (p.Leu599=)	rs139551241	0.00070
NM_020247.5(COQ8A):c.1554C>T (p.Phe518=)	rs747135135	0.00005
NM_020247.5(COQ8A):c.1399-12C>T	rs377529632	0.00001
NM_020247.5(COQ8A):c.*761G>A	rs145779574

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