List of variants in gene combination ABCA1, NIPSNAP3B reported as likely benign for Tangier disease

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

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005502.4(ABCA1):c.*1923A>C	rs41437944	0.00992
NM_005502.4(ABCA1):c.6729C>A (p.Asp2243Glu)	rs34879708	0.00586
NM_005502.4(ABCA1):c.*3251T>C	rs148080589	0.00319
NM_005502.4(ABCA1):c.*1327G>A	rs202165873	0.00041
NM_005502.4(ABCA1):c.*1586A>G	rs75340923	0.00025
NM_005502.4(ABCA1):c.*16del	rs762785983	0.00019
NM_005502.4(ABCA1):c.*1322C>T	rs144920087	0.00011
NM_005502.4(ABCA1):c.*1373dup	rs577914936	0.00004
NM_005502.4(ABCA1):c.*3254T>C	rs79840023	0.00002
NM_005502.4(ABCA1):c.*1291del	rs547038401
NM_005502.4(ABCA1):c.*1803G>C	rs549298167
NM_005502.4(ABCA1):c.*2129A>T	rs573577369
NM_005502.4(ABCA1):c.3205_3207del	rs538025657

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.