ClinVar Miner

List of variants studied for Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 by Baylor Genetics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_015046.7(SETX):c.5809_5811delinsTAC (p.Asp1937Tyr) rs1844713785
NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs) rs797045067
NM_015046.7(SETX):c.6038T>G (p.Val2013Gly) rs797045068
NM_015046.7(SETX):c.6107-7T>A rs766634428
NM_015046.7(SETX):c.6215_6216del (p.Glu2072fs) rs1564492117
NM_015046.7(SETX):c.7309C>G (p.Leu2437Val) rs1564464665

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