ClinVar Miner

List of variants reported as likely benign for Autosomal recessive cerebellar ataxia by Illumina Laboratory Services, Illumina

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_020247.5(COQ8A):c.255T>G (p.His85Gln) rs2297411 0.04148
NM_020247.5(COQ8A):c.-10+8T>C rs145688619 0.01402
NM_020247.5(COQ8A):c.*133G>A rs149820067 0.01173
NM_020247.5(COQ8A):c.*790A>G rs12565212 0.00855
NM_021830.5(TWNK):c.-241C>T rs113159821 0.00734
NM_021830.5(TWNK):c.*455C>T rs148810959 0.00460
NM_020247.5(COQ8A):c.*230G>A rs117808661 0.00143
NM_020247.5(COQ8A):c.238C>T (p.His80Tyr) rs76249490 0.00140
NM_006946.4(SPTBN2):c.1722G>A (p.Glu574=) rs143083152 0.00100
NM_021830.5(TWNK):c.1527C>T (p.Asp509=) rs62626272 0.00028
NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln) rs369223258 0.00009
NM_021830.5(TWNK):c.1172G>A (p.Arg391His) rs556445621 0.00001
NM_018319.4(TDP1):c.*89_*90dup rs397721425
NM_021830.5(TWNK):c.*472GA[2] rs370783985
NM_021830.5(TWNK):c.-306GT[1] rs146265037

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