ClinVar Miner

List of variants reported as benign for Autosomal recessive cerebellar ataxia

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Total variants: 16
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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_021830.5(TWNK):c.-605G>T rs3740484 0.35155
NM_020247.5(COQ8A):c.*464G>A rs8159 0.31059
NM_021830.5(TWNK):c.*766A>T rs3740488 0.28823
NM_021830.5(TWNK):c.1593-5C>T rs3740485 0.28642
NM_021830.5(TWNK):c.1593-3T>C rs3740486 0.28631
NM_020247.5(COQ8A):c.117G>A (p.Ala39=) rs11549708 0.16388
NM_021830.5(TWNK):c.*521C>G rs11542131 0.08029
NM_021830.5(TWNK):c.1102G>A (p.Val368Ile) rs17113613 0.04615
NM_021830.5(TWNK):c.*204G>A rs61871507 0.01328
NM_018319.3(TDP1):c.-276_-274dupCCG rs35210768
NM_018319.4(TDP1):c.*608del rs397897279
NM_020247.4(COQ8A):c.*807_*808insT rs3215920
NM_020247.5(COQ8A):c.*389dup rs11420839

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