ClinVar Miner

List of variants in gene TWNK reported as uncertain significance for Autosomal recessive cerebellar ataxia

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Total variants: 62
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HGVS dbSNP
NM_021830.5(TWNK):c.*234T>G rs886046633
NM_021830.5(TWNK):c.*248G>A
NM_021830.5(TWNK):c.*301C>T rs41291468
NM_021830.5(TWNK):c.*341G>A
NM_021830.5(TWNK):c.*346A>C
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.*453G>A
NM_021830.5(TWNK):c.*552G>C
NM_021830.5(TWNK):c.*555G>A rs886046635
NM_021830.5(TWNK):c.*561C>T
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.*769G>A
NM_021830.5(TWNK):c.*803A>G rs886046640
NM_021830.5(TWNK):c.-105T>C rs886046629
NM_021830.5(TWNK):c.-290G>C rs62626270
NM_021830.5(TWNK):c.-304G>A
NM_021830.5(TWNK):c.-418C>T
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.-584G>C
NM_021830.5(TWNK):c.-585T>G rs886046624
NM_021830.5(TWNK):c.-592C>T
NM_021830.5(TWNK):c.-622C>T
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.1070G>C (p.Arg357Pro) rs758026634
NM_021830.5(TWNK):c.1101C>T (p.Ile367=) rs200798080
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser) rs863223921
NM_021830.5(TWNK):c.1244-14C>T rs758757135
NM_021830.5(TWNK):c.1488T>C (p.Thr496=) rs549767223
NM_021830.5(TWNK):c.1572C>T (p.His524=)
NM_021830.5(TWNK):c.1597G>A (p.Ala533Thr)
NM_021830.5(TWNK):c.1609T>C (p.Tyr537His) rs144001072
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg) rs116046810
NM_021830.5(TWNK):c.1735-14C>A rs201795189
NM_021830.5(TWNK):c.1826G>T (p.Arg609Leu)
NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu) rs886046632
NM_021830.5(TWNK):c.1906G>A (p.Ala636Thr)
NM_021830.5(TWNK):c.1953G>A (p.Lys651=)
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.241C>G (p.Leu81Val) rs145068570
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.56G>A (p.Gly19Glu) rs767175342
NM_021830.5(TWNK):c.596G>A (p.Arg199Gln)
NM_021830.5(TWNK):c.639C>T (p.Gly213=) rs11542130
NM_021830.5(TWNK):c.672T>C (p.Ala224=)
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.913G>A (p.Val305Ile)
NM_021830.5(TWNK):c.922T>C (p.Leu308=) rs754389465

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