List of variants in gene combination FANCI, POLG 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: 26

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.3708G>T (p.Gln1236His)	rs3087374	0.06272
NM_002693.3(POLG):c.2958C>T (p.Tyr986=)	rs2307431	0.02985
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly)	rs2307441	0.02704
NM_001113378.2(FANCI):c.3816+15A>T	rs28493988	0.02368
NM_002693.3(POLG):c.3644-99C>T	rs3176241	0.01180
NM_002693.3(POLG):c.3644-72C>A	rs1801377	0.00312
NM_001113378.2(FANCI):c.3947G>A (p.Gly1316Glu)	rs138461165	0.00032
NM_001113378.2(FANCI):c.3925-4C>T	rs765962856	0.00002
NM_001113378.2(FANCI):c.3925-10C>G	rs1308242761	0.00001
NM_001113378.2(FANCI):c.3954C>T (p.Asn1318=)	rs778130460	0.00001
NM_001113378.2(FANCI):c.3925-11del
NM_001113378.2(FANCI):c.3925-13_3925-10dup
NM_001113378.2(FANCI):c.3925-14C>A
NM_001113378.2(FANCI):c.3925-14C>T
NM_001113378.2(FANCI):c.3925-15_3925-11dup
NM_001113378.2(FANCI):c.3925-17A>C
NM_001113378.2(FANCI):c.3925-17A>G	rs1164805902
NM_001113378.2(FANCI):c.3925-5T>C
NM_001113378.2(FANCI):c.3925-6T>G
NM_001113378.2(FANCI):c.3925-7C>T	rs1389176310
NM_001113378.2(FANCI):c.3925-9C>T	rs750218626
NM_001113378.2(FANCI):c.3927C>T (p.Gly1309=)	rs1275616370
NM_001113378.2(FANCI):c.3939G>A (p.Glu1313=)
NM_001113378.2(FANCI):c.3948A>G (p.Gly1316=)	rs1443770274
NM_001113378.2(FANCI):c.3969G>A (p.Lys1323=)
NM_001113378.2(FANCI):c.3984A>G (p.Lys1328=)

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.