List of variants in gene RUBCN studied for cerebellar ataxia

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_014687.4(RUBCN):c.2126C>T (p.Thr709Met)	rs35071969	0.01288
NM_014687.4(RUBCN):c.593C>T (p.Pro198Leu)	rs145980033	0.00420
NM_014687.4(RUBCN):c.2075A>T (p.Glu692Val)	rs201343662	0.00060
NM_014687.4(RUBCN):c.397C>T (p.His133Tyr)	rs201876836	0.00048
NM_014687.4(RUBCN):c.1642A>G (p.Thr548Ala)	rs767982852	0.00005
NM_014687.4(RUBCN):c.319G>A (p.Glu107Lys)	rs1114167292	0.00001
NM_014687.4(RUBCN):c.124A>G (p.Thr42Ala)	rs1451522942
NM_014687.4(RUBCN):c.1262-1G>C
NM_014687.4(RUBCN):c.1464C>A (p.Asp488Glu)
NM_014687.4(RUBCN):c.1474-5G>T
NM_014687.4(RUBCN):c.1553dup (p.Glu519fs)
NM_014687.4(RUBCN):c.1786+2595_1786+2596del
NM_014687.4(RUBCN):c.1847+2T>G
NM_014687.4(RUBCN):c.2284G>T (p.Val762Phe)
NM_014687.4(RUBCN):c.2537A>G (p.Asp846Gly)	rs2108833855
NM_014687.4(RUBCN):c.2624del (p.Ala875fs)	rs587777235
NM_014687.4(RUBCN):c.2647-2A>G

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