ClinVar Miner

List of variants studied for Deficiency of ribose-5-phosphate isomerase by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_144563.3(RPIA):c.253G>A (p.Ala85Thr) rs1399404493
NM_144563.3(RPIA):c.347-1G>A rs1422698928
NM_144563.3(RPIA):c.451C>T (p.Arg151Ter) rs760452079
NM_144563.3(RPIA):c.679C>T (p.Arg227Ter)

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