List of variants reported as pathogenic for anemia by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys)	rs121918221	0.00024
NM_006363.6(SEC23B):c.689+1G>A	rs398124226	0.00003
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter)	rs1291524243	0.00001
NM_000254.3(MTR):c.2474-1G>C	rs757963570	0.00001
NM_003126.4(SPTA1):c.2320C>T (p.Arg774Ter)	rs751026146	0.00001
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter)	rs770637624	0.00001
GRCh37/hg19 22q11.21(chr22:18894835-21505417)
GRCh37/hg19 Xq28(chrX:153138672-153665655)
NC_000011.10:g.5226570_5233984del
NM_000254.3(MTR):c.610-1G>T	rs1661544157
NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro)	rs72554665
NM_000517.6(HBA2):c.410T>C (p.Leu137Pro)	rs41469945
NM_000969.5(RPL5):c.74-1G>C	rs1553284997
NM_001029.5(RPS26):c.224_225del (p.Val75fs)	rs1555208596
NM_001355436.2(SPTB):c.5794_5798+6del	rs1555367318
NM_030943.4(AMN):c.320_321dup (p.Asp108fs)	rs1555381324
NM_058216.3(RAD51C):c.572-1G>C	rs1413872299

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.