List of variants in gene combination FANCA, LOC132090450 reported as likely benign for anemia

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: 32

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000135.4(FANCA):c.3408+9C>G	rs377702890	0.00043
NM_000135.4(FANCA):c.3408+16A>G	rs373636902	0.00006
NM_000135.4(FANCA):c.3381A>G (p.Thr1127=)	rs946344673	0.00001
NM_000135.4(FANCA):c.3409-16G>C	rs1340274026	0.00001
NM_000135.4(FANCA):c.3372T>C (p.Gly1124=)
NM_000135.4(FANCA):c.3375C>G (p.Ala1125=)
NM_000135.4(FANCA):c.3376C>T (p.Leu1126=)	rs2143109313
NM_000135.4(FANCA):c.3378G>A (p.Leu1126=)
NM_000135.4(FANCA):c.3378G>C (p.Leu1126=)
NM_000135.4(FANCA):c.3384G>A (p.Gln1128=)	rs867468844
NM_000135.4(FANCA):c.3387C>T (p.Asp1129=)	rs2143109171
NM_000135.4(FANCA):c.3390C>T (p.Ile1130=)	rs373168838
NM_000135.4(FANCA):c.3393T>A (p.Thr1131=)
NM_000135.4(FANCA):c.3393T>G (p.Thr1131=)	rs2143109062
NM_000135.4(FANCA):c.3396C>A (p.Ala1132=)
NM_000135.4(FANCA):c.3396C>G (p.Ala1132=)
NM_000135.4(FANCA):c.3396C>T (p.Ala1132=)
NM_000135.4(FANCA):c.3408+11C>T
NM_000135.4(FANCA):c.3408+18C>T
NM_000135.4(FANCA):c.3408+19C>T
NM_000135.4(FANCA):c.3408+7T>A
NM_000135.4(FANCA):c.3408+7T>C
NM_000135.4(FANCA):c.3408+8G>A
NM_000135.4(FANCA):c.3408+9C>A
NM_000135.4(FANCA):c.3408+9C>T	rs377702890
NM_000135.4(FANCA):c.3409-14G>A
NM_000135.4(FANCA):c.3409-14G>T
NM_000135.4(FANCA):c.3409-15C>T
NM_000135.4(FANCA):c.3409-18C>T	rs762166434
NM_000135.4(FANCA):c.3409-19G>A
NM_000135.4(FANCA):c.3409-20T>C
NM_000135.4(FANCA):c.3409-22_3409-20del

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.