ClinVar Miner

List of variants in gene CYP11A1 reported as likely benign for 46,XY disorder of sex development

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000781.3(CYP11A1):c.235G>A (p.Val79Ile) rs143655263 0.00303
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161 0.00262
NM_000781.3(CYP11A1):c.830-14C>G rs190239248 0.00251
NM_000781.3(CYP11A1):c.438C>T (p.Ala146=) rs141920628 0.00189
NM_000781.3(CYP11A1):c.650A>C (p.Glu217Ala) rs143879080 0.00136
NM_000781.3(CYP11A1):c.1290C>T (p.Phe430=) rs147405344 0.00031
NM_000781.3(CYP11A1):c.1158-5C>T rs377242922 0.00009
NM_000781.3(CYP11A1):c.366C>T (p.Leu122=) rs530494910 0.00006

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