ClinVar Miner

List of variants in gene GLRX5 reported as pathogenic for Sideroblastic anemia 3

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_016417.3(GLRX5):c.294A>G (p.Gln98=) rs121908584 0.00001
NM_016417.3(GLRX5):c.383T>A (p.Met128Lys) rs891111781 0.00001
NM_016417.3(GLRX5):c.443T>C (p.Leu148Ser) rs765487627 0.00001
NM_016417.3(GLRX5):c.200G>A (p.Cys67Tyr) rs1891344853
NM_016417.3(GLRX5):c.301A>C (p.Lys101Gln) rs869312752

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