ClinVar Miner

List of variants studied for Spinocerebellar ataxia with epilepsy by OMIM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_002693.3(POLG):c.1491G>C (p.Gln497His) rs121918052

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