ClinVar Miner

List of variants reported as uncertain significance for Spinocerebellar ataxia type 5; Autosomal recessive spinocerebellar ataxia 14 by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_006946.4(SPTBN2):c.3722A>G (p.Glu1241Gly)	rs141683210	0.00056
NM_006946.4(SPTBN2):c.92C>T (p.Ser31Leu)	rs147766428	0.00056

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