ClinVar Miner

List of variants in gene TWNK reported as likely benign for autosomal recessive degenerative and progressive cerebellar ataxia

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_021830.5(TWNK):c.-241C>T rs113159821 0.00734
NM_021830.5(TWNK):c.*455C>T rs148810959 0.00460
NM_021830.5(TWNK):c.*419A>T rs187553791 0.00223
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg) rs116046810 0.00126
NM_021830.5(TWNK):c.76G>A (p.Gly26Ser) rs577209883 0.00041
NM_021830.5(TWNK):c.1527C>T (p.Asp509=) rs62626272 0.00028
NM_021830.5(TWNK):c.1172G>A (p.Arg391His) rs556445621 0.00001

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