List of variants reported as pathogenic for inborn disorder of bile acid synthesis by Natera, Inc.

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 28

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)	rs121908096	0.00031
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His)	rs587778778	0.00011
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp)	rs201114717	0.00010
NM_000784.4(CYP27A1):c.1184+1G>A	rs587778777	0.00009
NM_000784.4(CYP27A1):c.562C>T (p.Arg188Ter)	rs188850202	0.00004
NM_000784.4(CYP27A1):c.845-1G>A	rs397515353	0.00004
NM_000784.4(CYP27A1):c.1263+1G>A	rs397515355	0.00003
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln)	rs121908097	0.00003
NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln)	rs376230356	0.00003
NM_000784.4(CYP27A1):c.886C>T (p.Gln296Ter)	rs575064188	0.00003
NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter)	rs533885672	0.00002
NM_000784.4(CYP27A1):c.850A>T (p.Lys284Ter)	rs72551319	0.00002
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp)	rs573951598	0.00001
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)	rs121908099	0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)	rs121908098	0.00001
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp)	rs72551312	0.00001
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=)	rs587778796	0.00001
NM_000784.4(CYP27A1):c.446+1G>A	rs587778797	0.00001
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro)	rs201346271	0.00001
NM_000784.4(CYP27A1):c.691C>T (p.Arg231Ter)	rs72551315	0.00001
NM_000784.4(CYP27A1):c.1180_1181del (p.Leu394fs)	rs1178393503
NM_000784.4(CYP27A1):c.11_20dup (p.Arg8fs)	rs886041342
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys)	rs72551322
NM_000784.4(CYP27A1):c.446+1G>T	rs587778797
NM_000784.4(CYP27A1):c.526del (p.Asp176fs)	rs765512351
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter)	rs72551318
NM_000784.4(CYP27A1):c.819del (p.Asp273fs)	rs587778812
NM_000784.4(CYP27A1):c.844+1G>A	rs397515354

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.