ClinVar Miner

List of variants in gene PRDX3 reported as pathogenic for cerebellar ataxia

Included ClinVar conditions (255):
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Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_006793.5(PRDX3):c.604G>A (p.Asp202Asn) rs548327727 0.00017
NM_006793.5(PRDX3):c.425C>G (p.Ala142Gly) rs202061531 0.00007
NM_006793.5(PRDX3):c.43C>T (p.Arg15Ter) rs371560438 0.00004
NM_006793.5(PRDX3):c.169+1G>A
NM_006793.5(PRDX3):c.340dup (p.Ala114fs) rs2133659317
NM_006793.5(PRDX3):c.37-2A>G rs1368897658
NM_006793.5(PRDX3):c.489C>G (p.Asp163Glu)
NM_006793.5(PRDX3):c.508C>T (p.Arg170Ter) rs140609531
NM_006793.5(PRDX3):c.539G>A (p.Gly180Asp)
NM_006793.5(PRDX3):c.658C>T (p.Gln220Ter)

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