ClinVar Miner

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

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Total variants: 8
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HGVS dbSNP
NM_020247.4(COQ8A):c.*807_*808insT rs3215920
NM_020247.4(COQ8A):c.*815C>T rs10495274
NM_020247.5(COQ8A):c.*389dup rs11420839
NM_020247.5(COQ8A):c.*464G>A rs8159
NM_020247.5(COQ8A):c.117G>A (p.Ala39=) rs11549708
NM_020247.5(COQ8A):c.1440C>T (p.Phe480=) rs12593
NM_020247.5(COQ8A):c.1660-9T>C rs7552783
NM_020247.5(COQ8A):c.1716T>C (p.Ser572=) rs3738725

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