ClinVar Miner

List of variants reported as uncertain significance for Spastic ataxia 3

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_138395.4(MARS2):c.1595C>G (p.Ala532Gly)
NM_138395.4(MARS2):c.341G>T (p.Cys114Phe) rs1574775353
NM_138395.4(MARS2):c.590T>A (p.Leu197His) rs2106292827
NM_138395.4(MARS2):c.799C>T (p.Pro267Ser) rs1574775779

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