ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_144563.3(RPIA):c.347-1G>A
NM_144563.3(RPIA):c.404C>T (p.Ala135Val) rs121918591
NM_144563.3(RPIA):c.627G>C (p.Trp209Cys) rs1558699183
NM_144563.3(RPIA):c.762del (p.Asn255fs) rs730880316

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