List of variants in gene combination FANCA, LOC130059837, LOC130059838 reported as pathogenic for hematologic disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
GRCh38/hg38 16q24.3(chr16:89764114-89781847)x0
GRCh38/hg38 16q24.3(chr16:89764796-89811592)x1
NC_000016.10:g.(?_89752128)_(89792557_?)del
NC_000016.10:g.(?_89752138)_(89792547_?)del
NC_000016.10:g.(?_89758571)_(89784970_?)del
NC_000016.10:g.(?_89764807)_(89805402_?)del
NC_000016.10:g.(?_89764880)_(89773394_?)del
NG_011706.1:g.10587_63081del
NG_011706.1:g.13291_71928del
NM_000135.2(FANCA):c.1007_3066del
NM_000135.4(FANCA):c.2151+328_2778+1085del

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.