ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive spinocerebellar ataxia 15

Included ClinVar conditions (1):
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Total variants: 11
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HGVS dbSNP gnomAD frequency
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.2284G>T (p.Val762Phe)
NM_014687.4(RUBCN):c.2537A>G (p.Asp846Gly) rs2108833855

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