ClinVar Miner

List of variants in gene HSD3B2 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000198.4(HSD3B2):c.707T>C (p.Leu236Ser) rs35887327 0.01309
NM_000198.4(HSD3B2):c.809T>C (p.Ile270Thr) rs75429891 0.00042
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.385G>A (p.Gly129Arg) rs587628683 0.00001
NM_000198.4(HSD3B2):c.776C>T (p.Thr259Met) rs80358221 0.00001
NM_000198.4(HSD3B2):c.376G>T (p.Glu126Ter)
NM_000198.4(HSD3B2):c.638G>C (p.Ser213Thr)
NM_000198.4(HSD3B2):c.664C>A (p.Pro222Thr) rs80358220
NM_000198.4(HSD3B2):c.665C>A (p.Pro222Gln)
NM_000198.4(HSD3B2):c.733G>C (p.Ala245Pro)
NM_000198.4(HSD3B2):c.818_819del (p.Lys273fs) rs754609778
NM_000198.4(HSD3B2):c.849del (p.Arg282_Trp283insTer)
NM_000198.4(HSD3B2):c.931C>T (p.Gln311Ter) rs781213951
NM_000198.4(HSD3B2):c.946C>T (p.Arg316Cys)

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