ClinVar Miner

List of variants studied for Autosomal recessive spinocerebellar ataxia 10 by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_018075.5(ANO10):c.124A>T (p.Lys42Ter)	rs768831597	0.00001
NC_000003.11:g.(43474220_43591211)_(43602895_43607144)del
NC_000003.11:g.(43640159_43641875)_(43647356_43663400)del
NM_018075.5(ANO10):c.1162+1G>A
NM_018075.5(ANO10):c.132dup (p.Asp45fs)	rs540331226

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