List of variants studied for inherited aplastic anemia by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
GRCh38/hg38 16q24.3(chr16:89773385-89775741)
NM_000059.4(BRCA2):c.4733T>G (p.Leu1578Ter)	rs2137509604
NM_000135.4(FANCA):c.964C>T (p.His322Tyr)	rs772768595
NM_001408458.1(BRCA1):c.-61-9703_-61-8238del
NM_007294.4(BRCA1):c.5073A>G (p.Thr1691=)	rs80356853
NM_018062.4(FANCL):c.746_756del (p.Pro249fs)	rs2104799800
NM_018062.4(FANCL):c.761_771del (p.Leu254fs)	rs2104799592

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.