ClinVar Miner

List of variants in gene HSD11B2 reported by Athena Diagnostics Inc

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000196.4(HSD11B2):c.468C>A (p.Thr156=) rs5479 0.07968
NM_000196.4(HSD11B2):c.534G>A (p.Glu178=) rs45483293 0.02897
NM_000196.4(HSD11B2):c.681G>A (p.Pro227=) rs72650122 0.00362
NM_000196.4(HSD11B2):c.1121G>A (p.Arg374Gln) rs45442297 0.00336
NM_000196.4(HSD11B2):c.177C>A (p.Ala59=) rs45562134 0.00040
NM_000196.4(HSD11B2):c.440G>A (p.Arg147His) rs13306425 0.00019
NM_000196.4(HSD11B2):c.949G>A (p.Asp317Asn) rs147758873 0.00003
NM_000196.4(HSD11B2):c.266G>A (p.Gly89Asp) rs1555518481
NM_000196.4(HSD11B2):c.664+16del rs72650121

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