ClinVar Miner

List of variants in gene TWNK studied for Autosomal recessive cerebellar ataxia

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Total variants: 49
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HGVS dbSNP
NM_021830.5(TWNK):c.*204G>A rs61871507
NM_021830.5(TWNK):c.*234T>G rs886046633
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.*438G>C rs886046634
NM_021830.5(TWNK):c.*455C>T rs148810959
NM_021830.5(TWNK):c.*472_*473GA[2] rs370783985
NM_021830.5(TWNK):c.*521C>G rs11542131
NM_021830.5(TWNK):c.*555G>A rs886046635
NM_021830.5(TWNK):c.*574C>T rs886046636
NM_021830.5(TWNK):c.*619G>A rs886046637
NM_021830.5(TWNK):c.*709C>G rs41291470
NM_021830.5(TWNK):c.*747C>G rs886046638
NM_021830.5(TWNK):c.*763T>C rs886046639
NM_021830.5(TWNK):c.*766A>T rs3740488
NM_021830.5(TWNK):c.*803A>G rs886046640
NM_021830.5(TWNK):c.-105T>C rs886046629
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.-423C>T rs886046627
NM_021830.5(TWNK):c.-470G>A rs886046626
NM_021830.5(TWNK):c.-549G>A rs886046625
NM_021830.5(TWNK):c.-585T>G rs886046624
NM_021830.5(TWNK):c.-605G>T rs3740484
NM_021830.5(TWNK):c.-644A>T rs886046623
NM_021830.5(TWNK):c.-650A>G rs187213541
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg) rs62626271
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.1593-3T>C rs3740486
NM_021830.5(TWNK):c.1593-5C>T rs3740485
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg) rs116046810
NM_021830.5(TWNK):c.1735-14C>A rs201795189
NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu) rs886046632
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr) rs370814108
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.274G>A (p.Gly92Ser) rs886046630
NM_021830.5(TWNK):c.276C>T (p.Gly92=) rs886046631
NM_021830.5(TWNK):c.384C>T (p.Ser128=) rs148234280
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
NM_021830.5(TWNK):c.77G>T (p.Gly26Val) rs772221026
NM_021830.5(TWNK):c.922T>C (p.Leu308=) rs754389465

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