ClinVar Miner

List of variants reported as benign for Cortisone reductase deficiency 1

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_004285.4(H6PD):c.2019T>C (p.Tyr673=) rs9434742 0.42000
NM_004285.4(H6PD):c.2118A>G (p.Ser706=) rs9434743 0.41917
NM_004285.4(H6PD):c.741T>C (p.Ala247=) rs11121350 0.25452
NM_004285.4(H6PD):c.745+88T>A rs12032814 0.23253
NM_004285.4(H6PD):c.636G>A (p.Ala212=) rs7524046 0.20778
NM_004285.3(H6PD):c.-7_1delCCCAGGCA

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