ClinVar Miner

List of variants reported as benign for inborn disorder of bile acid synthesis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001701.4(BAAT):c.*948C>A rs7043029 0.80525
NM_001701.4(BAAT):c.*46G>A rs2229594 0.78680
NM_001701.4(BAAT):c.59G>A (p.Arg20Gln) rs1572983 0.63259
NM_001701.4(BAAT):c.*1458G>A rs59311341 0.15501
NM_001701.4(BAAT):c.*589C>T rs41274983 0.15466
NM_001701.4(BAAT):c.*611G>A rs41274981 0.15464
NM_001701.4(BAAT):c.-116G>A rs117775873 0.06702
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=) rs692003 0.06494
NM_001701.4(BAAT):c.*1090A>G rs76498584 0.03623
NM_001701.4(BAAT):c.*1998T>C rs10123365 0.02163
NM_001701.4(BAAT):c.*1041A>C rs41316534 0.02125
NM_001701.4(BAAT):c.*1884G>A rs10120225 0.02003
NM_001701.4(BAAT):c.911T>C (p.Val304Ala) rs61755096 0.01872
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=) rs61733619 0.01643
NM_001701.4(BAAT):c.*312A>G rs41281025 0.01409
NM_001701.4(BAAT):c.*1029A>T rs74606977 0.01162
NM_001701.4(BAAT):c.350A>G (p.Lys117Arg) rs115215226 0.01157
NM_001701.4(BAAT):c.*160T>C rs139712344 0.00931
NM_001701.4(BAAT):c.*955A>G rs41301517 0.00912
NM_001701.4(BAAT):c.*895C>T rs16936057 0.00500
NM_001701.4(BAAT):c.1134C>T (p.His378=) rs118089324 0.00047
NM_000784.3(CYP27A1):c.-357dup rs397795841
NM_001701.4(BAAT):c.*1475G>A rs10120345
NM_001701.4(BAAT):c.*1886T>C rs10123392
NM_001701.4(BAAT):c.602G>C (p.Arg201Pro) rs41281027

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.