ClinVar Miner

List of variants reported as pathogenic for Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 by OMIM

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Total variants: 11
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HGVS dbSNP
NM_015046.5(SETX):c.[1807A>G;1957C>A]
NM_015046.5(SETX):c.[3880C>T;822G>H]
NM_015046.7(SETX):c.1027G>T (p.Glu343Ter) rs121434381
NM_015046.7(SETX):c.2602C>T (p.Gln868Ter) rs121434377
NM_015046.7(SETX):c.2967_2971del (p.Arg989fs) rs587776536
NM_015046.7(SETX):c.340_342CTT[1] (p.Leu115del) rs587776537
NM_015046.7(SETX):c.4087C>T (p.Arg1363Ter) rs121434376
NM_015046.7(SETX):c.5927T>G (p.Leu1976Arg) rs121434379
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe) rs121434380
NM_015046.7(SETX):c.6638C>T (p.Pro2213Leu) rs28940290
NM_015046.7(SETX):c.994C>T (p.Arg332Trp) rs29001665

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