ClinVar Miner

List of variants studied for cortisone reductase deficiency

Included ClinVar conditions (2):
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Total variants: 21
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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.1358G>A (p.Arg453Gln) rs6688832 0.30935
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_005525.4(HSD11B1):c.332-29T>G rs12086634 0.19650
NM_004285.4(H6PD):c.1053C>T (p.Gly351=) rs34448374 0.00319
NM_004285.4(H6PD):c.1342G>A (p.Ala448Thr) rs34580447 0.00150
NM_004285.4(H6PD):c.1109G>A (p.Arg370Gln) rs182877860 0.00009
NM_004285.4(H6PD):c.948C>G (p.Tyr316Ter) rs398122817 0.00008
NM_004285.4(H6PD):c.1076G>A (p.Gly359Asp) rs387907167 0.00001
NM_004285.4(H6PD):c.960G>A (p.Val320=) rs398122816 0.00001
NM_005525.4(HSD11B1):c.409C>T (p.Arg137Cys) rs387907168 0.00001
NM_004285.3(H6PD):c.-7_1delCCCAGGCA
NM_004285.4(H6PD):c.1514C>G (p.Ala505Gly)
NM_004285.4(H6PD):c.1860_1861insACAGGTGGTTGACCTGTGGCCGGGTCTGA (p.Glu621delinsThrGlyGlyTer) rs606231222
NM_004285.4(H6PD):c.325del (p.Arg109fs) rs398122818
NM_005525.4(HSD11B1):c.331+53dup rs45487298
NM_005525.4(HSD11B1):c.561G>T (p.Lys187Asn) rs756817759
NM_181755.2(HSD11B1):c.[331+53_331+54insA;332-29T>G]

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