ClinVar Miner

List of variants studied for Spinocerebellar ataxia 45 by O&I group, Department of Genetics, University Medical Center of Groningen

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001447.3(FAT2):c.12464C>G (p.Ser4155Cys) rs145466001 0.00031
NM_001447.3(FAT2):c.12899T>C (p.Met4300Thr) rs1443089616 0.00002
NM_001447.3(FAT2):c.10758G>C (p.Lys3586Asn) rs770597316 0.00001

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