ClinVar Miner

List of variants reported as uncertain significance for Deficiency of steroid 17-alpha-monooxygenase by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000102.4(CYP17A1):c.-14G>A rs17115125 0.00562
NM_000102.4(CYP17A1):c.*65C>A rs537220295 0.00052
NM_000102.4(CYP17A1):c.753+13G>A rs201956379 0.00031
NM_000102.4(CYP17A1):c.298-11G>C rs188885755 0.00028
NM_000102.4(CYP17A1):c.988G>A (p.Glu330Lys) rs142037395 0.00017
NM_000102.4(CYP17A1):c.-15C>T rs140012815 0.00009
NM_000102.4(CYP17A1):c.100C>T (p.Leu34=) rs145117545 0.00009
NM_000102.4(CYP17A1):c.987C>T (p.Tyr329=) rs374769118 0.00009
NM_000102.4(CYP17A1):c.628A>G (p.Ser210Gly) rs142435666 0.00007
NM_000102.4(CYP17A1):c.-33G>A rs754158354 0.00006
NM_000102.4(CYP17A1):c.1269C>G (p.Thr423=) rs554217514 0.00006
NM_000102.4(CYP17A1):c.200G>A (p.Arg67His) rs376074317 0.00005
NM_000102.4(CYP17A1):c.1019G>A (p.Arg340His) rs765987481 0.00003
NM_000102.4(CYP17A1):c.1488C>T (p.Arg496=) rs539435111 0.00002
NM_000102.4(CYP17A1):c.847G>C (p.Asp283His) rs746480412 0.00002
NM_000102.4(CYP17A1):c.*130C>T rs886046665 0.00001
NM_000102.4(CYP17A1):c.671T>C (p.Phe224Ser) rs202092158 0.00001
NM_000102.4(CYP17A1):c.*67C>A rs886046666
NM_000102.4(CYP17A1):c.1134C>T (p.Asp378=) rs772903405
NM_000102.4(CYP17A1):c.1363A>G (p.Ile455Val) rs138630127
NM_000102.4(CYP17A1):c.412G>A (p.Gly138Ser) rs1485258085

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.