ClinVar Miner

List of variants in gene HSD3B2 reported as likely pathogenic for 3 beta-Hydroxysteroid dehydrogenase deficiency

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000198.4(HSD3B2):c.518T>G (p.Leu173Arg) rs762479018 0.00004
NM_000198.4(HSD3B2):c.1064G>A (p.Trp355Ter) rs767128094 0.00001
NM_000198.4(HSD3B2):c.776C>T (p.Thr259Met) rs80358221 0.00001
NM_000198.4(HSD3B2):c.1000C>T (p.Gln334Ter) rs905880501
NM_000198.4(HSD3B2):c.347T>G (p.Val116Gly)
NM_000198.4(HSD3B2):c.701T>C (p.Leu234Pro)
NM_000198.4(HSD3B2):c.791A>G (p.Tyr264Cys)
NM_000198.4(HSD3B2):c.875G>A (p.Trp292Ter) rs756663759
NM_000198.4(HSD3B2):c.931C>T (p.Gln311Ter) rs781213951

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