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

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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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