ClinVar Miner

List of variants studied for Spinocerebellar ataxia type 5; Autosomal recessive spinocerebellar ataxia 14 by Fulgent Genetics, Fulgent Genetics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_006946.4(SPTBN2):c.6669G>A (p.Gly2223=) rs138819654 0.00560
NM_006946.4(SPTBN2):c.3800C>T (p.Ala1267Val) rs148065361 0.00031
NM_006946.4(SPTBN2):c.692G>A (p.Cys231Tyr) rs773129687 0.00004
NM_006946.4(SPTBN2):c.6591C>T (p.Ser2197=) rs778388054 0.00003
NM_006946.4(SPTBN2):c.7039C>T (p.Arg2347Trp) rs746195427 0.00002
NM_006946.4(SPTBN2):c.2216G>A (p.Arg739His) rs372938259 0.00001

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