List of variants reported as likely benign for Aplastic anemia 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: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr)	rs35719940	0.01370
NM_198253.3(TERT):c.1234C>T (p.His412Tyr)	rs34094720	0.00316
NM_198253.3(TERT):c.1812A>G (p.Ala604=)	rs33959226	0.00255
NM_198253.3(TERT):c.1574-7G>A	rs34846301	0.00220
NM_198253.3(TERT):c.3105C>T (p.Val1035=)	rs181612536	0.00207
NM_198253.3(TERT):c.2517G>A (p.Thr839=)	rs140124989	0.00178
NM_198253.3(TERT):c.534C>T (p.Leu178=)	rs370420108	0.00124
NM_198253.3(TERT):c.572G>C (p.Ser191Thr)	rs11952056	0.00100
NM_198253.3(TERT):c.2775C>T (p.His925=)	rs34528119	0.00035
NM_198253.3(TERT):c.219+7C>T	rs573817924	0.00034
NM_000619.3(IFNG):c.*500C>T	rs528060683	0.00016
NM_198253.3(TERT):c.2383-15C>T	rs574645600	0.00013
NM_198253.3(TERT):c.1392C>T (p.Phe464=)	rs186596886	0.00008
NM_000619.3(IFNG):c.*465A>T	rs532081510	0.00004
NM_198253.3(TERT):c.2946T>C (p.Cys982=)	rs201689770	0.00004
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del)	rs377639087

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.