List of variants reported as pathogenic for anemia by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)	rs121913049	0.00013
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)	rs137852986	0.00010
NM_000135.4(FANCA):c.4015del (p.Leu1339fs)	rs762902309	0.00004
NM_000135.2:c.1471-490_3627-655del
NM_000135.2:c.522+715_2852+656del
NM_000135.4(FANCA):c.1294del (p.Leu432fs)	rs1211579979
NM_000135.4(FANCA):c.1626+967_2015-679del
NM_000135.4(FANCA):c.2014+479_2504+1244del
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs)	rs587779904

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.