ClinVar Miner

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

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Total variants: 21
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HGVS dbSNP
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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