ClinVar Miner

List of variants in gene RPIA reported as likely pathogenic for Deficiency of ribose-5-phosphate isomerase

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_144563.3(RPIA):c.253G>A (p.Ala85Thr)	rs1399404493
NM_144563.3(RPIA):c.770T>C (p.Ile257Thr)	rs2104137690

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