ClinVar Miner

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

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Total variants: 58
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HGVS dbSNP
NM_006946.3(SPTBN2):c.1722G>A (p.Glu574=) rs143083152
NM_018075.5(ANO10):c.*196C>A rs73831274
NM_018075.5(ANO10):c.*246A>G rs73831273
NM_018075.5(ANO10):c.*432G>T rs17075612
NM_018075.5(ANO10):c.*444C>T rs114518528
NM_018075.5(ANO10):c.-90C>T rs565644253
NM_018075.5(ANO10):c.1066A>G (p.Ser356Gly) rs56389778
NM_018075.5(ANO10):c.1477-14G>A rs78884042
NM_018075.5(ANO10):c.1682C>T (p.Thr561Met) rs17409162
NM_018075.5(ANO10):c.486C>T (p.Leu162=) rs34829628
NM_018075.5(ANO10):c.627T>C (p.Ala209=) rs61742945
NM_018075.5(ANO10):c.74A>C (p.Gln25Pro) rs112040665
NM_018319.4(TDP1):c.*1448G>A rs34004710
NM_018319.4(TDP1):c.*1452C>T rs34923595
NM_018319.4(TDP1):c.*1460C>G rs35944390
NM_018319.4(TDP1):c.*393T>C rs7150480
NM_018319.4(TDP1):c.*539G>A rs35090050
NM_018319.4(TDP1):c.*799A>G rs35437984
NM_018319.4(TDP1):c.*89_*90dup rs397721425
NM_018319.4(TDP1):c.-177C>T rs35132667
NM_018319.4(TDP1):c.-224A>G rs35439694
NM_018319.4(TDP1):c.-230-4G>T rs28365053
NM_018319.4(TDP1):c.1077A>G (p.Pro359=) rs17126522
NM_018319.4(TDP1):c.1098A>G (p.Gln366=) rs34563565
NM_018319.4(TDP1):c.1107T>C (p.Asn369=) rs10151377
NM_018319.4(TDP1):c.302C>T (p.Pro101Leu) rs35455108
NM_018319.4(TDP1):c.911G>A (p.Arg304Gln) rs34452707
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
NM_021830.5(TWNK):c.*204G>A rs61871507
NM_021830.5(TWNK):c.*301C>T rs41291468
NM_021830.5(TWNK):c.*367A>G rs62626296
NM_021830.5(TWNK):c.*419A>T rs187553791
NM_021830.5(TWNK):c.*455C>T rs148810959
NM_021830.5(TWNK):c.*472_*473GA[2] rs370783985
NM_021830.5(TWNK):c.-241C>T rs113159821
NM_021830.5(TWNK):c.-290G>C rs62626270
NM_021830.5(TWNK):c.-306_-305GT[1] rs146265037
NM_021830.5(TWNK):c.-650A>G rs187213541
NM_021830.5(TWNK):c.1101C>T (p.Ile367=) rs200798080
NM_021830.5(TWNK):c.1172G>A (p.Arg391His) rs556445621
NM_021830.5(TWNK):c.1488T>C (p.Thr496=) rs549767223
NM_021830.5(TWNK):c.1527C>T (p.Asp509=) rs62626272
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg) rs116046810
NM_021830.5(TWNK):c.1735-14C>A rs201795189
NM_021830.5(TWNK):c.2045G>A (p.Arg682His) rs182559752
NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln) rs369223258
NM_021830.5(TWNK):c.492C>T (p.Leu164=) rs775463083
NM_021830.5(TWNK):c.639C>T (p.Gly213=) rs11542130
NM_021830.5(TWNK):c.76G>A (p.Gly26Ser) rs577209883

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