List of variants reported as benign for Congenital bile acid synthesis defect 2 by Illumina Laboratory Services, Illumina

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: 20

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005989.4(AKR1D1):c.*5A>C	rs1872929	0.81870
NM_005989.4(AKR1D1):c.*507G>A	rs7780066	0.80479
NM_005989.4(AKR1D1):c.*36C>T	rs1872930	0.80337
NM_005989.4(AKR1D1):c.*1163T>C	rs11763063	0.25784
NM_005989.4(AKR1D1):c.*362A>C	rs3735023	0.17831
NM_005989.4(AKR1D1):c.*1417C>T	rs17169522	0.13508
NM_005989.4(AKR1D1):c.*1274A>G	rs11766258	0.08627
NM_005989.4(AKR1D1):c.*1484T>C	rs17169523	0.05069
NM_005989.4(AKR1D1):c.856-10G>A	rs17169518	0.04717
NM_005989.4(AKR1D1):c.*1265A>G	rs113105583	0.04114
NM_005989.4(AKR1D1):c.*1095T>C	rs61290940	0.04068
NM_005989.4(AKR1D1):c.*1311A>C	rs188138947	0.03571
NM_005989.4(AKR1D1):c.*1082G>C	rs58526603	0.02658
NM_005989.4(AKR1D1):c.*879T>C	rs73729460	0.01943
NM_005989.4(AKR1D1):c.*1363A>G	rs2465921	0.01751
NM_005989.4(AKR1D1):c.477C>T (p.Asp159=)	rs34703687	0.01506
NM_005989.4(AKR1D1):c.*1085C>T	rs12540339	0.00863
NM_005989.4(AKR1D1):c.*48C>T	rs201088819	0.00069
NM_005989.4(AKR1D1):c.*1139G>C	rs566511122
NM_005989.4(AKR1D1):c.*1153C>G	rs112833888

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.