List of variants studied for Spinocerebellar ataxia type 5 by Baylor Genetics

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_006946.4(SPTBN2):c.1973G>A (p.Arg658Gln)	rs753491527	0.00001
NM_006946.4(SPTBN2):c.773-5T>C	rs1941832250	0.00001
NM_006946.4(SPTBN2):c.1549C>G (p.Arg517Gly)	rs371919862
NM_006946.4(SPTBN2):c.2012G>A (p.Arg671Gln)	rs1443491358
NM_006946.4(SPTBN2):c.3777-3C>G
NM_006946.4(SPTBN2):c.4358A>T (p.Asp1453Val)	rs1940772032
NM_006946.4(SPTBN2):c.812C>T (p.Thr271Ile)	rs1941829953

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