List of variants reported as pathogenic for Autosomal recessive spinocerebellar ataxia 2

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_015160.3(PMPCA):c.554G>A (p.Arg185Gln)	rs573267388	0.00010
NM_015160.3(PMPCA):c.1408+1G>A	rs753895120	0.00001
NM_015160.3(PMPCA):c.1543G>A (p.Gly515Arg)	rs869025293	0.00001
NM_015160.3(PMPCA):c.766G>A (p.Val256Met)	rs746549806	0.00001
NM_015160.3(PMPCA):c.1129G>A (p.Ala377Thr)	rs753611141
NM_015160.3(PMPCA):c.287C>T (p.Ser96Leu)	rs869025292
NM_015160.3(PMPCA):c.64C>T (p.Arg22Trp)	rs1057519454

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