ClinVar Miner

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

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Total variants: 10
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HGVS dbSNP
NM_020247.5(COQ8A):c.*133G>A rs149820067
NM_020247.5(COQ8A):c.*230G>A rs117808661
NM_020247.5(COQ8A):c.*681G>A rs10482
NM_020247.5(COQ8A):c.*790A>G rs12565212
NM_020247.5(COQ8A):c.-10+8T>C rs145688619
NM_020247.5(COQ8A):c.1053C>T (p.Gly351=) rs55958233
NM_020247.5(COQ8A):c.1914C>T (p.Ser638=) rs56043893
NM_020247.5(COQ8A):c.238C>T (p.His80Tyr) rs76249490
NM_020247.5(COQ8A):c.255T>G (p.His85Gln) rs2297411
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129

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