ClinVar Miner

List of variants studied for Spinocerebellar ataxia type 5 by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_006946.4(SPTBN2):c.6536G>A (p.Arg2179Gln) rs759206588 0.00002
NM_006946.4(SPTBN2):c.4986-5T>G rs1371679359 0.00001
NM_006946.4(SPTBN2):c.3236C>T (p.Ala1079Val) rs763021473
NM_006946.4(SPTBN2):c.5504C>T (p.Ala1835Val) rs1940531426
NM_006946.4(SPTBN2):c.6688G>C (p.Glu2230Gln) rs1940196069
NM_006946.4(SPTBN2):c.7096C>T (p.Pro2366Ser) rs1940076802
NM_006946.4(SPTBN2):c.901A>G (p.Met301Val) rs897181468

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