ClinVar Miner

List of variants in gene GPI reported as benign for carbohydrate metabolism disease

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000175.5(GPI):c.489A>G (p.Gly163=) rs1801015 0.14862
NM_000175.5(GPI):c.762G>A (p.Lys254=) rs1864139 0.09803
NM_000175.5(GPI):c.122+20G>A rs8191360 0.02067
NM_000175.5(GPI):c.948C>A (p.Ala316=) rs8191416 0.01510
NM_000175.5(GPI):c.1356G>C (p.Ala452=) rs34604585
NM_000175.5(GPI):c.751-5dup rs375313737

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