List of variants reported as pathogenic for anemia by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000518.5(HBB):c.93-21G>A	rs35004220	0.00009
NM_000135.4(FANCA):c.2T>C (p.Met1Thr)	rs769479800	0.00004
GRCh38/hg38 15q25.2(chr15:82130136-82727529)x1
GRCh38/hg38 16q24.3(chr16:89764114-89781847)x0
GRCh38/hg38 22q12.3(chr22:37098319-37127846)x1
GRCh38/hg38 3q29(chr3:197681032-198111976)x1
NM_000135.4(FANCA):c.1492del (p.Leu498fs)
NM_000135.4(FANCA):c.4010+1_4010+18del	rs752457319
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)	rs137852314
NM_000975.5(RPL11):c.60_61del (p.Cys21fs)	rs1570566590
NM_001022.4(RPS19):c.316del (p.Ala106fs)
NM_001029.5(RPS26):c.1A>G (p.Met1Val)	rs143951267
NM_001029.5(RPS26):c.3+1G>T
NM_001374504.1(TMPRSS6):c.1055C>A (p.Ser352Ter)

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.