ClinVar Miner

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

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Total variants: 23
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HGVS dbSNP
NM_021830.5(TWNK):c.*234T>G rs886046633
NM_021830.5(TWNK):c.*438G>C rs886046634
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.*803A>G rs886046640
NM_021830.5(TWNK):c.-105T>C rs886046629
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.-644A>T rs886046623
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg) rs62626271
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.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.77G>T (p.Gly26Val) rs772221026
NM_021830.5(TWNK):c.922T>C (p.Leu308=) rs754389465

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