List of variants in gene COQ8A reported as benign for Autosomal recessive cerebellar ataxia

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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: 7

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HGVS	dbSNP	gnomAD frequency
NM_020247.4(COQ8A):c.*815C>T	rs10495274	0.53093
NM_020247.5(COQ8A):c.1660-9T>C	rs7552783	0.45219
NM_020247.5(COQ8A):c.1716T>C (p.Ser572=)	rs3738725	0.42035
NM_020247.5(COQ8A):c.*464G>A	rs8159	0.31059
NM_020247.5(COQ8A):c.117G>A (p.Ala39=)	rs11549708	0.16388
NM_020247.4(COQ8A):c.807_808insT	rs3215920
NM_020247.5(COQ8A):c.*389dup	rs11420839

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