List of variants in gene RPIA reported as pathogenic for carbohydrate metabolism disease

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_144563.3(RPIA):c.404C>T (p.Ala135Val)	rs121918591	0.00001
NM_144563.3(RPIA):c.347-1G>A	rs1422698928
NM_144563.3(RPIA):c.451C>T (p.Arg151Ter)	rs760452079
NM_144563.3(RPIA):c.627G>C (p.Trp209Cys)	rs1558699183
NM_144563.3(RPIA):c.679C>T (p.Arg227Ter)
NM_144563.3(RPIA):c.762del (p.Asn255fs)	rs730880316

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