List of variants reported as likely pathogenic for Spinocerebellar ataxia type 6 by Genomics England Pilot Project, Genomics England

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.2524_2551del (p.Glu842fs)	rs2144956632
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln)	rs1555745467
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn)	rs1064795531
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His)	rs121908216
NM_001127222.2(CACNA1A):c.519C>A (p.Asp173Glu)	rs2144936093

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