ClinVar Miner

List of variants reported as likely pathogenic for Spinocerebellar ataxia type 5

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Total variants: 9
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HGVS dbSNP
NM_006946.3(SPTBN2):c.1307T>C (p.Met436Thr) rs1554986345
NM_006946.3(SPTBN2):c.1310G>A (p.Arg437Gln) rs1554986337
NM_006946.3(SPTBN2):c.1877T>C (p.Leu626Pro) rs1554984881
NM_006946.3(SPTBN2):c.470T>C (p.Ile157Thr) rs875989881
NM_006946.4(SPTBN2):c.1052G>C (p.Arg351Pro) rs541484241
NM_006946.4(SPTBN2):c.1276_1278del (p.Leu426del) rs1590955348
NM_006946.4(SPTBN2):c.1309C>T (p.Arg437Trp)
NM_006946.4(SPTBN2):c.4358A>T (p.Asp1453Val)
NM_006946.4(SPTBN2):c.812C>T (p.Thr271Ile)

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