ClinVar Miner

List of variants in gene COQ8A studied for Autosomal recessive cerebellar ataxia

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Total variants: 34
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HGVS dbSNP
NM_020247.4(COQ8A):c.*807_*808insT rs3215920
NM_020247.4(COQ8A):c.*815C>T rs10495274
NM_020247.4(COQ8A):c.-137C>A rs557786445
NM_020247.5(COQ8A):c.*133G>A rs149820067
NM_020247.5(COQ8A):c.*150C>T rs755137919
NM_020247.5(COQ8A):c.*22C>T rs374941896
NM_020247.5(COQ8A):c.*230G>A rs117808661
NM_020247.5(COQ8A):c.*252A>C rs886046070
NM_020247.5(COQ8A):c.*326C>G rs886046071
NM_020247.5(COQ8A):c.*349G>A rs113041399
NM_020247.5(COQ8A):c.*389dup rs11420839
NM_020247.5(COQ8A):c.*464G>A rs8159
NM_020247.5(COQ8A):c.*570T>C rs778729725
NM_020247.5(COQ8A):c.*693G>T rs886046074
NM_020247.5(COQ8A):c.*790A>G rs12565212
NM_020247.5(COQ8A):c.-10+8T>C rs145688619
NM_020247.5(COQ8A):c.-113A>G rs886046063
NM_020247.5(COQ8A):c.1163-10C>T rs886046067
NM_020247.5(COQ8A):c.117G>A (p.Ala39=) rs11549708
NM_020247.5(COQ8A):c.1188C>T (p.Asp396=) rs139133094
NM_020247.5(COQ8A):c.1399-13G>A rs73087649
NM_020247.5(COQ8A):c.1644C>T (p.Thr548=) rs141423403
NM_020247.5(COQ8A):c.1660-9T>C rs7552783
NM_020247.5(COQ8A):c.1711G>A (p.Ala571Thr) rs762900727
NM_020247.5(COQ8A):c.1716T>C (p.Ser572=) rs3738725
NM_020247.5(COQ8A):c.1800C>T (p.Val600=) rs74589348
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.291C>T (p.Ser97=) rs111529228
NM_020247.5(COQ8A):c.358G>A (p.Val120Met) rs376347405
NM_020247.5(COQ8A):c.427G>A (p.Gly143Arg) rs760566419
NM_020247.5(COQ8A):c.687G>A (p.Leu229=) rs752409331
NM_020247.5(COQ8A):c.697G>A (p.Ala233Thr) rs376462712
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527

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