List of variants reported as 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: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_198253.3(TERT):c.915G>A (p.Ala305=)	rs2736098	0.21206
NM_198253.3(TERT):c.*99C>T	rs2853690	0.20149
NM_198253.3(TERT):c.3039C>T (p.His1013=)	rs33954691	0.08834
NM_198253.3(TERT):c.835G>A (p.Ala279Thr)	rs61748181	0.02258
NM_198253.3(TERT):c.2031C>T (p.Gly677=)	rs33956095	0.02136
NM_198253.3(TERT):c.3324G>A (p.Pro1108=)	rs35033501	0.01868
NM_198253.3(TERT):c.1950+10C>T	rs33948291	0.01758
NM_000619.3(IFNG):c.*180C>T	rs2069722	0.01606
NM_000619.3(IFNG):c.*539A>G	rs2069723	0.01255
NM_198253.3(TERT):c.*63C>T	rs5031049	0.01135
NM_198253.3(TERT):c.1659C>T (p.Val553=)	rs35809415	0.00838
NM_198253.3(TERT):c.2097C>T (p.Ala699=)	rs33963617	0.00739
NM_198253.3(TERT):c.*153C>T	rs114012142	0.00547
NM_198253.3(TERT):c.2582+11C>T	rs180675821	0.00036
NM_198253.3(TERT):c.2520G>A (p.Leu840=)	rs144310369	0.00029

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.