ClinVar Miner

List of variants in gene CYP27A1 reported by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102
NM_000784.4(CYP27A1):c.1017+5G>A rs370304209
NM_000784.4(CYP27A1):c.1029G>A (p.Thr343=) rs771343931
NM_000784.4(CYP27A1):c.1148T>A (p.Met383Lys) rs539356203
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687
NM_000784.4(CYP27A1):c.1343G>A (p.Arg448His) rs370868184
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_000784.4(CYP27A1):c.148G>A (p.Val50Ile) rs149101812
NM_000784.4(CYP27A1):c.355C>T (p.Arg119Trp) rs369294392
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=) rs692003
NM_000784.4(CYP27A1):c.491G>C (p.Arg164Pro) rs148417330
NM_000784.4(CYP27A1):c.506C>T (p.Ala169Val) rs59443548
NM_000784.4(CYP27A1):c.524C>T (p.Thr175Met) rs2229381
NM_000784.4(CYP27A1):c.702C>T (p.Pro234=) rs371636461
NM_000784.4(CYP27A1):c.747G>A (p.Gln249=) rs764766872
NM_000784.4(CYP27A1):c.921G>A (p.Val307=) rs147975335

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.