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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 30

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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_020247.5(COQ8A):c.255T>G (p.His85Gln)	rs2297411	0.04148
NM_020247.5(COQ8A):c.*133G>A	rs149820067	0.01173
NM_020247.5(COQ8A):c.*790A>G	rs12565212	0.00855
NM_020247.5(COQ8A):c.*349G>A	rs113041399	0.00729
NM_020247.5(COQ8A):c.291C>T (p.Ser97=)	rs111529228	0.00567
NM_020247.5(COQ8A):c.*230G>A	rs117808661	0.00143
NM_020247.5(COQ8A):c.238C>T (p.His80Tyr)	rs76249490	0.00140
NM_020247.5(COQ8A):c.1399-13G>A	rs73087649	0.00041
NM_020247.5(COQ8A):c.1188C>T (p.Asp396=)	rs139133094	0.00026
NM_020247.5(COQ8A):c.1644C>T (p.Thr548=)	rs141423403	0.00013
NM_020247.5(COQ8A):c.*570T>C	rs778729725	0.00008
NM_020247.5(COQ8A):c.1711G>A (p.Ala571Thr)	rs762900727	0.00004
NM_020247.5(COQ8A):c.687G>A (p.Leu229=)	rs752409331	0.00002
NM_020247.5(COQ8A):c.*150C>T	rs755137919	0.00001
NM_020247.5(COQ8A):c.*22C>T	rs374941896	0.00001
NM_020247.5(COQ8A):c.358G>A (p.Val120Met)	rs376347405	0.00001
NM_020247.4(COQ8A):c.807_808insT	rs3215920
NM_020247.5(COQ8A):c.*252A>C	rs886046070
NM_020247.5(COQ8A):c.*326C>G	rs886046071
NM_020247.5(COQ8A):c.*389dup	rs11420839
NM_020247.5(COQ8A):c.*693G>T	rs886046074
NM_020247.5(COQ8A):c.1163-10C>T	rs886046067
NM_020247.5(COQ8A):c.1800C>T (p.Val600=)	rs74589348
NM_020247.5(COQ8A):c.427G>A (p.Gly143Arg)	rs760566419
NM_020247.5(COQ8A):c.697G>A (p.Ala233Thr)	rs376462712

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