ClinVar Miner

List of variants in gene GLRX5 reported as pathogenic for inborn disorder of amino acid and other organic acid metabolism

Included ClinVar conditions (322):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_016417.3(GLRX5):c.148AAG[1] (p.Lys51del) rs869320757
NM_016417.3(GLRX5):c.197A>C (p.Gln66Pro) rs2139646713
NM_016417.3(GLRX5):c.86_93dup (p.Ala32fs) rs869320758

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