ClinVar Miner

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 rs768434428
NM_006946.4(SPTBN2):c.4358A>T (p.Asp1453Val) rs1940772032
NM_006946.4(SPTBN2):c.812C>T (p.Thr271Ile) rs1941829953

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