ClinVar Miner

List of variants reported as benign for Autosomal recessive cerebellar ataxia

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Total variants: 22
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HGVS dbSNP
NM_018075.5(ANO10):c.1293+9A>G rs7616708
NM_018075.5(ANO10):c.1385G>A (p.Arg462Gln) rs3772165
NM_018319.3(TDP1):c.-276_-274dupCCG rs35210768
NM_018319.4(TDP1):c.*608del rs397897279
NM_018319.4(TDP1):c.*77C>T rs9488
NM_018319.4(TDP1):c.-21C>T rs34348197
NM_018319.4(TDP1):c.-230-14C>A rs28365055
NM_018319.4(TDP1):c.291A>G (p.Gln97=) rs3825663
NM_018319.4(TDP1):c.400G>A (p.Ala134Thr) rs28365054
NM_020247.4(COQ8A):c.*807_*808insT rs3215920
NM_020247.4(COQ8A):c.*815C>T rs10495274
NM_020247.5(COQ8A):c.*389dup rs11420839
NM_020247.5(COQ8A):c.*464G>A rs8159
NM_020247.5(COQ8A):c.117G>A (p.Ala39=) rs11549708
NM_020247.5(COQ8A):c.1440C>T (p.Phe480=) rs12593
NM_020247.5(COQ8A):c.1660-9T>C rs7552783
NM_020247.5(COQ8A):c.1716T>C (p.Ser572=) rs3738725
NM_021830.5(TWNK):c.*521C>G rs11542131
NM_021830.5(TWNK):c.*766A>T rs3740488
NM_021830.5(TWNK):c.-605G>T rs3740484
NM_021830.5(TWNK):c.1593-3T>C rs3740486
NM_021830.5(TWNK):c.1593-5C>T rs3740485

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