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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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.1527C>T (p.Asp509=)	rs62626272	0.00028
NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln)	rs369223258	0.00009
NM_021830.5(TWNK):c.1172G>A (p.Arg391His)	rs556445621	0.00001
NM_021830.5(TWNK):c.*472GA[2]	rs370783985
NM_021830.5(TWNK):c.-306GT[1]	rs146265037

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